This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA406179854
Gene: ETHE1 HGNC NCBI
ZNF575 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43526316C>T , CM000681.2:g.43526316C>T GRCh38
NC_000019.9:g.44030468C>T , CM000681.1:g.44030468C>T GRCh37
NC_000019.8:g.48722308C>T NCBI36
NG_008141.1:g.5929G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014297.5:c.260G>A (ETHE1) MANE Select NP_055112.2:p.Gly87Asp
ENST00000292147.7:c.260G>A (ETHE1) MANE Select ENSP00000292147.1:p.Gly87Asp
NM_001320867.1:c.227G>A (ETHE1) NP_001307796.1:p.Gly76Asp
NM_001320867.2:c.227G>A (ETHE1) NP_001307796.1:p.Gly76Asp
NM_001320868.1:c.6+199G>A (ETHE1) NP_001307797.1:n.6+199G>A
NM_001320868.2:c.6+199G>A (ETHE1) NP_001307797.1:n.6+199G>A
NM_001320869.1:c.81+781G>A (ETHE1) NP_001307798.1:n.81+781G>A
NM_001320869.2:c.81+781G>A (ETHE1) NP_001307798.1:n.81+781G>A
NM_014297.3:c.260G>A (ETHE1) NP_055112.2:p.Gly87Asp
NM_014297.4:c.260G>A (ETHE1) NP_055112.2:p.Gly87Asp
ENST00000292147.6:c.260G>A (ETHE1) ENSP00000292147.1:p.Gly87Asp
ENST00000458714.2:c.-66+78C>T (ZNF575) ENSP00000413956.2:n.-66+78C>T
ENST00000594342.5:c.226+199G>A (ETHE1) ENSP00000469652.1:n.226+199G>A
ENST00000595115.1:n.478G>A (ETHE1)
ENST00000598330.1:c.226+199G>A (ETHE1) ENSP00000469219.1:n.226+199G>A
ENST00000600651.5:c.260G>A (ETHE1) ENSP00000469037.1:p.Gly87Asp
ENST00000602138.1:c.*264G>A (ETHE1) ENSP00000468964.1:n.*264G>A
XM_005258687.2:c.179G>A (ETHE1) XP_005258744.1:p.Gly60Asp
XM_005258687.4:c.179G>A (ETHE1) XP_005258744.1:p.Gly60Asp
XM_005258688.2:c.6+199G>A (ETHE1) XP_005258745.1:n.6+199G>A
XM_011526685.1:c.226+199G>A (ETHE1) XP_011524987.1:n.226+199G>A
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