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Canonical Allele Identifier: CA409121773
Community Standard Title: NM_000022.4(ADA):c.187G>T (p.Ala63Ser)
Gene: ADA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44629078C>A , CM000682.2:g.44629078C>A GRCh38
NC_000020.10:g.43257719C>A , CM000682.1:g.43257719C>A GRCh37
NC_000020.9:g.42691133C>A NCBI36
NG_007385.1:g.27658G>T , LRG_16:g.27658G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000022.4:c.187G>T MANE Select NP_000013.2:p.Ala63Ser
ENST00000372874.9:c.187G>T MANE Select ENSP00000361965.4:p.Ala63Ser
NM_000022.2:c.187G>T , LRG_16t1:c.187G>T NP_000013.2:p.Ala63Ser
NM_000022.3:c.187G>T NP_000013.2:p.Ala63Ser
NM_001322050.1:c.-103G>T NP_001308979.1:n.-103G>T
NM_001322050.2:c.-103G>T NP_001308979.1:n.-103G>T
NM_001322051.1:c.187G>T NP_001308980.1:p.Ala63Ser
NM_001322051.2:c.187G>T NP_001308980.1:p.Ala63Ser
NR_136160.1:n.338G>T
NR_136160.2:n.279G>T
ENST00000372874.8:c.187G>T ENSP00000361965.4:p.Ala63Ser
ENST00000492931.5:n.271G>T
ENST00000492931.6:n.278G>T
ENST00000536076.1:n.367G>T
ENST00000536076.2:c.34G>T ENSP00000512234.1:p.Ala12Ser
ENST00000536532.5:c.187G>T ENSP00000440946.1:p.Ala63Ser
ENST00000536532.6:c.187G>T ENSP00000440946.1:p.Ala63Ser
ENST00000537820.1:c.187G>T ENSP00000441818.1:p.Ala63Ser
ENST00000537820.2:c.187G>T ENSP00000441818.1:p.Ala63Ser
ENST00000539235.5:c.187G>T ENSP00000446464.1:p.Ala63Ser
ENST00000539235.6:c.187G>T ENSP00000446464.1:p.Ala63Ser
ENST00000545776.5:n.241G>T
ENST00000695889.1:c.187G>T ENSP00000512240.1:p.Ala63Ser
ENST00000695891.1:c.187G>T ENSP00000512241.1:p.Ala63Ser
ENST00000695927.1:c.265G>T ENSP00000512270.1:p.Ala89Ser
ENST00000695949.1:c.184G>T ENSP00000512281.1:p.Ala62Ser
ENST00000695957.1:c.187G>T ENSP00000512286.1:p.Ala63Ser
ENST00000695991.1:c.187G>T ENSP00000512314.1:p.Ala63Ser
ENST00000695992.1:c.187G>T ENSP00000512315.1:p.Ala63Ser
ENST00000695993.1:c.187G>T ENSP00000512316.1:p.Ala63Ser
ENST00000695994.1:c.187G>T ENSP00000512317.1:p.Ala63Ser
ENST00000695995.1:c.187G>T ENSP00000512318.1:p.Ala63Ser
ENST00000695996.1:n.258G>T
ENST00000695997.1:n.258G>T
ENST00000696003.1:n.279G>T
ENST00000696004.1:n.279G>T
ENST00000696006.1:c.187G>T ENSP00000512325.1:p.Ala63Ser
ENST00000696007.1:c.154G>T ENSP00000512326.1:p.Ala52Ser
ENST00000696009.1:n.298G>T
ENST00000696010.1:n.300G>T
ENST00000696017.1:c.184G>T ENSP00000512333.1:p.Ala62Ser
ENST00000696034.1:c.187G>T ENSP00000512343.1:p.Ala63Ser
ENST00000696038.1:c.187G>T ENSP00000512344.1:p.Ala63Ser
ENST00000696039.1:n.475G>T
ENST00000696058.1:c.187G>T ENSP00000512361.1:p.Ala63Ser
ENST00000696059.1:c.*132G>T ENSP00000512362.1:n.*132G>T
ENST00000696060.1:c.187G>T ENSP00000512363.1:p.Ala63Ser
ENST00000696061.1:c.184G>T ENSP00000512364.1:p.Ala62Ser
ENST00000696062.1:c.250G>T ENSP00000512365.1:p.Ala84Ser
ENST00000696063.1:c.262G>T ENSP00000512366.1:p.Ala88Ser
ENST00000696064.1:c.34G>T ENSP00000512367.1:p.Ala12Ser
ENST00000696065.1:c.34G>T ENSP00000512368.1:p.Ala12Ser
ENST00000696075.1:c.*157G>T ENSP00000512374.1:n.*157G>T
ENST00000696076.1:c.187G>T ENSP00000512375.1:p.Ala63Ser
ENST00000696077.1:c.184G>T ENSP00000512376.1:p.Ala62Ser
ENST00000696078.1:c.187G>T ENSP00000512377.1:p.Ala63Ser
ENST00000696079.1:c.187G>T ENSP00000512378.1:p.Ala63Ser
ENST00000696080.1:c.187G>T ENSP00000512379.1:p.Ala63Ser
ENST00000696082.1:c.265G>T ENSP00000512380.1:p.Ala89Ser
ENST00000696084.1:n.288G>T
ENST00000696104.1:c.187G>T ENSP00000512399.1:p.Ala63Ser
ENST00000696105.1:c.187G>T ENSP00000512400.1:p.Ala63Ser
XM_005260236.2:c.187G>T XP_005260293.1:p.Ala63Ser
XM_011528478.1:c.-103G>T XP_011526780.1:n.-103G>T
XM_011528479.1:c.-103G>T XP_011526781.1:n.-103G>T
XR_244129.1:n.241G>T
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