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: CA114360
Community Standard Title: NM_000277.3(PAH):c.1A>G (p.Met1Val)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917130T>C , CM000674.2:g.102917130T>C GRCh38
NC_000012.11:g.103310908T>C , CM000674.1:g.103310908T>C GRCh37
NC_000012.10:g.101835038T>C NCBI36
NG_008690.1:g.5473A>G
NG_008690.2:g.46281A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1A>G MANE Select NP_000268.1:p.Met1Val
ENST00000553106.6:c.1A>G MANE Select ENSP00000448059.1:p.Met1Val
NM_000277.1:c.1A>G NP_000268.1:p.Met1Val
NM_000277.2:c.1A>G NP_000268.1:p.Met1Val
NM_001354304.1:c.1A>G NP_001341233.1:p.Met1Val
NM_001354304.2:c.1A>G NP_001341233.1:p.Met1Val
ENST00000307000.7:c.-147A>G ENSP00000303500.2:n.-147A>G
ENST00000546844.1:c.1A>G ENSP00000446658.1:p.Met1Val
ENST00000547319.1:n.312A>G
ENST00000549111.5:n.97A>G
ENST00000551337.5:c.1A>G ENSP00000447620.1:p.Met1Val
ENST00000551988.5:n.90A>G
ENST00000553106.5:c.1A>G ENSP00000448059.1:p.Met1Val
ENST00000635500.1:n.29-4232A>G
XM_011538422.1:c.1A>G XP_011536724.1:p.Met1Val
XM_017019370.2:c.1A>G XP_016874859.1:p.Met1Val
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