Canonical Allele Identifier: CA381168894
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751372A>T , CM000673.2:g.64751372A>T GRCh38
NC_000011.9:g.64518844A>T , CM000673.1:g.64518844A>T GRCh37
NC_000011.8:g.64275420A>T NCBI36
NG_013018.1:g.14344T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1922T>A MANE Select ENSP00000164139.3:p.Leu641His
ENST00000164139.3:c.1922T>A ENSP00000164139.3:p.Leu641His
ENST00000377432.7:c.1658T>A ENSP00000366650.3:p.Leu553His
ENST00000462303.1:n.246T>A
NM_001164716.1:c.1658T>A NP_001158188.1:p.Leu553His
NM_005609.2:c.1922T>A NP_005600.1:p.Leu641His
NM_005609.3:c.1922T>A NP_005600.1:p.Leu641His
NM_005609.4:c.1922T>A MANE Select NP_005600.1:p.Leu641His