Canonical Allele Identifier: CA381169128
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751408T>A , CM000673.2:g.64751408T>A GRCh38
NC_000011.9:g.64518880T>A , CM000673.1:g.64518880T>A GRCh37
NC_000011.8:g.64275456T>A NCBI36
NG_013018.1:g.14308A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1886A>T MANE Select ENSP00000164139.3:p.Asp629Val
ENST00000164139.3:c.1886A>T ENSP00000164139.3:p.Asp629Val
ENST00000377432.7:c.1622A>T ENSP00000366650.3:p.Asp541Val
ENST00000462303.1:n.210A>T
NM_001164716.1:c.1622A>T NP_001158188.1:p.Asp541Val
NM_005609.2:c.1886A>T NP_005600.1:p.Asp629Val
NM_005609.3:c.1886A>T NP_005600.1:p.Asp629Val
NM_005609.4:c.1886A>T MANE Select NP_005600.1:p.Asp629Val