Canonical Allele Identifier: CA1978917197
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751732A= , CM000673.2:g.64751732A= GRCh38
NC_000011.9:g.64519204A= , CM000673.1:g.64519204A= GRCh37
NC_000011.8:g.64275780A= NCBI36
NG_013018.1:g.13984T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1769-77T= MANE Select ENSP00000164139.3:n.1769-77T=
ENST00000164139.3:c.1769-77T= ENSP00000164139.3:n.1769-77T=
ENST00000377432.7:c.1505-77T= ENSP00000366650.3:n.1505-77T=
ENST00000462303.1:n.93-77T=
NM_001164716.1:c.1505-77T= NP_001158188.1:n.1505-77T=
NM_005609.2:c.1769-77T= NP_005600.1:n.1769-77T=
NM_005609.3:c.1769-77T= NP_005600.1:n.1769-77T=
NM_005609.4:c.1769-77T= MANE Select NP_005600.1:n.1769-77T=