Canonical Allele Identifier: CA381169138
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751411C>A , CM000673.2:g.64751411C>A GRCh38
NC_000011.9:g.64518883C>A , CM000673.1:g.64518883C>A GRCh37
NC_000011.8:g.64275459C>A NCBI36
NG_013018.1:g.14305G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1883G>T MANE Select ENSP00000164139.3:p.Gly628Val
ENST00000164139.3:c.1883G>T ENSP00000164139.3:p.Gly628Val
ENST00000377432.7:c.1619G>T ENSP00000366650.3:p.Gly540Val
ENST00000462303.1:n.207G>T
NM_001164716.1:c.1619G>T NP_001158188.1:p.Gly540Val
NM_005609.2:c.1883G>T NP_005600.1:p.Gly628Val
NM_005609.3:c.1883G>T NP_005600.1:p.Gly628Val
NM_005609.4:c.1883G>T MANE Select NP_005600.1:p.Gly628Val