Canonical Allele Identifier: CA1978918566
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64746987C= , CM000673.2:g.64746987C= GRCh38
NC_000011.9:g.64514459C= , CM000673.1:g.64514459C= GRCh37
NC_000011.8:g.64271035C= NCBI36
NG_007574.1:g.3470G= , LRG_100:g.3470G=
NG_013018.1:g.18729G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2313G= MANE Select ENSP00000164139.3:p.Arg771=
ENST00000164139.3:c.2313G= ENSP00000164139.3:p.Arg771=
ENST00000377432.7:c.2049G= ENSP00000366650.3:p.Arg683=
ENST00000483742.1:n.1666G=
NM_001164716.1:c.2049G= NP_001158188.1:p.Arg683=
NM_005609.2:c.2313G= NP_005600.1:p.Arg771=
NM_005609.3:c.2313G= NP_005600.1:p.Arg771=
NM_005609.4:c.2313G= MANE Select NP_005600.1:p.Arg771=