Canonical Allele Identifier: CA381175724
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs774752187

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753549C>A , CM000673.2:g.64753549C>A GRCh38
NC_000011.9:g.64521021C>A , CM000673.1:g.64521021C>A GRCh37
NC_000011.8:g.64277597C>A NCBI36
NG_013018.1:g.12167G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1373G>T MANE Select ENSP00000164139.3:p.Arg458Leu
ENST00000164139.3:c.1373G>T ENSP00000164139.3:p.Arg458Leu
ENST00000377432.7:c.1109G>T ENSP00000366650.3:p.Arg370Leu
NM_001164716.1:c.1109G>T NP_001158188.1:p.Arg370Leu
NM_005609.2:c.1373G>T NP_005600.1:p.Arg458Leu
NM_005609.3:c.1373G>T NP_005600.1:p.Arg458Leu
NM_005609.4:c.1373G>T MANE Select NP_005600.1:p.Arg458Leu