Canonical Allele Identifier: CA381169375
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751450T>A , CM000673.2:g.64751450T>A GRCh38
NC_000011.9:g.64518922T>A , CM000673.1:g.64518922T>A GRCh37
NC_000011.8:g.64275498T>A NCBI36
NG_013018.1:g.14266A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1844A>T MANE Select ENSP00000164139.3:p.His615Leu
ENST00000164139.3:c.1844A>T ENSP00000164139.3:p.His615Leu
ENST00000377432.7:c.1580A>T ENSP00000366650.3:p.His527Leu
ENST00000462303.1:n.168A>T
NM_001164716.1:c.1580A>T NP_001158188.1:p.His527Leu
NM_005609.2:c.1844A>T NP_005600.1:p.His615Leu
NM_005609.3:c.1844A>T NP_005600.1:p.His615Leu
NM_005609.4:c.1844A>T MANE Select NP_005600.1:p.His615Leu