Canonical Allele Identifier: CA381112055
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs759631990

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759690C>T , CM000673.2:g.64759690C>T GRCh38
NC_000011.9:g.64527162C>T , CM000673.1:g.64527162C>T GRCh37
NC_000011.8:g.64283738C>T NCBI36
NG_013018.1:g.6026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.209G>A MANE Select ENSP00000164139.3:p.Arg70His
ENST00000164139.3:c.209G>A ENSP00000164139.3:p.Arg70His
ENST00000377432.7:c.209G>A ENSP00000366650.3:p.Arg70His
NM_001164716.1:c.209G>A NP_001158188.1:p.Arg70His
NM_005609.2:c.209G>A NP_005600.1:p.Arg70His
NM_005609.3:c.209G>A NP_005600.1:p.Arg70His
NM_005609.4:c.209G>A MANE Select NP_005600.1:p.Arg70His