Canonical Allele Identifier: CA1978920828
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753440A= , CM000673.2:g.64753440A= GRCh38
NC_000011.9:g.64520912A= , CM000673.1:g.64520912A= GRCh37
NC_000011.8:g.64277488A= NCBI36
NG_013018.1:g.12276T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1403+79T= MANE Select ENSP00000164139.3:n.1403+79T=
ENST00000164139.3:c.1403+79T= ENSP00000164139.3:n.1403+79T=
ENST00000377432.7:c.1139+79T= ENSP00000366650.3:n.1139+79T=
NM_001164716.1:c.1139+79T= NP_001158188.1:n.1139+79T=
NM_005609.2:c.1403+79T= NP_005600.1:n.1403+79T=
NM_005609.3:c.1403+79T= NP_005600.1:n.1403+79T=
NM_005609.4:c.1403+79T= MANE Select NP_005600.1:n.1403+79T=