Canonical Allele Identifier: CA381168964
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751387G>C , CM000673.2:g.64751387G>C GRCh38
NC_000011.9:g.64518859G>C , CM000673.1:g.64518859G>C GRCh37
NC_000011.8:g.64275435G>C NCBI36
NG_013018.1:g.14329C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1907C>G MANE Select ENSP00000164139.3:p.Ala636Gly
ENST00000164139.3:c.1907C>G ENSP00000164139.3:p.Ala636Gly
ENST00000377432.7:c.1643C>G ENSP00000366650.3:p.Ala548Gly
ENST00000462303.1:n.231C>G
NM_001164716.1:c.1643C>G NP_001158188.1:p.Ala548Gly
NM_005609.2:c.1907C>G NP_005600.1:p.Ala636Gly
NM_005609.3:c.1907C>G NP_005600.1:p.Ala636Gly
NM_005609.4:c.1907C>G MANE Select NP_005600.1:p.Ala636Gly