Canonical Allele Identifier: CA381175695
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753540G>C , CM000673.2:g.64753540G>C GRCh38
NC_000011.9:g.64521012G>C , CM000673.1:g.64521012G>C GRCh37
NC_000011.8:g.64277588G>C NCBI36
NG_013018.1:g.12176C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1382C>G MANE Select ENSP00000164139.3:p.Ser461Cys
ENST00000164139.3:c.1382C>G ENSP00000164139.3:p.Ser461Cys
ENST00000377432.7:c.1118C>G ENSP00000366650.3:p.Ser373Cys
NM_001164716.1:c.1118C>G NP_001158188.1:p.Ser373Cys
NM_005609.2:c.1382C>G NP_005600.1:p.Ser461Cys
NM_005609.3:c.1382C>G NP_005600.1:p.Ser461Cys
NM_005609.4:c.1382C>G MANE Select NP_005600.1:p.Ser461Cys