Canonical Allele Identifier: CA381111546
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758689A>C , CM000673.2:g.64758689A>C GRCh38
NC_000011.9:g.64526161A>C , CM000673.1:g.64526161A>C GRCh37
NC_000011.8:g.64282737A>C NCBI36
NG_013018.1:g.7027T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.259T>G MANE Select ENSP00000164139.3:p.Ser87Ala
ENST00000164139.3:c.259T>G ENSP00000164139.3:p.Ser87Ala
ENST00000377432.7:c.244-423T>G ENSP00000366650.3:n.244-423T>G
NM_001164716.1:c.244-423T>G NP_001158188.1:n.244-423T>G
NM_005609.2:c.259T>G NP_005600.1:p.Ser87Ala
NM_005609.3:c.259T>G NP_005600.1:p.Ser87Ala
NM_005609.4:c.259T>G MANE Select NP_005600.1:p.Ser87Ala