Canonical Allele Identifier: CA381169191
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751420G>T , CM000673.2:g.64751420G>T GRCh38
NC_000011.9:g.64518892G>T , CM000673.1:g.64518892G>T GRCh37
NC_000011.8:g.64275468G>T NCBI36
NG_013018.1:g.14296C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1874C>A MANE Select ENSP00000164139.3:p.Thr625Lys
ENST00000164139.3:c.1874C>A ENSP00000164139.3:p.Thr625Lys
ENST00000377432.7:c.1610C>A ENSP00000366650.3:p.Thr537Lys
ENST00000462303.1:n.198C>A
NM_001164716.1:c.1610C>A NP_001158188.1:p.Thr537Lys
NM_005609.2:c.1874C>A NP_005600.1:p.Thr625Lys
NM_005609.3:c.1874C>A NP_005600.1:p.Thr625Lys
NM_005609.4:c.1874C>A MANE Select NP_005600.1:p.Thr625Lys