Canonical Allele Identifier: CA1978916216
Gene: PYGM HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1874C= MANE Select ENSP00000164139.3:p.Thr625=
ENST00000164139.3:c.1874C= ENSP00000164139.3:p.Thr625=
ENST00000377432.7:c.1610C= ENSP00000366650.3:p.Thr537=
ENST00000462303.1:n.198C=
NM_001164716.1:c.1610C= NP_001158188.1:p.Thr537=
NM_005609.2:c.1874C= NP_005600.1:p.Thr625=
NM_005609.3:c.1874C= NP_005600.1:p.Thr625=
NM_005609.4:c.1874C= MANE Select NP_005600.1:p.Thr625=