Canonical Allele Identifier: CA381175706
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753542G>T , CM000673.2:g.64753542G>T GRCh38
NC_000011.9:g.64521014G>T , CM000673.1:g.64521014G>T GRCh37
NC_000011.8:g.64277590G>T NCBI36
NG_013018.1:g.12174C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1380C>A MANE Select ENSP00000164139.3:p.His460Gln
ENST00000164139.3:c.1380C>A ENSP00000164139.3:p.His460Gln
ENST00000377432.7:c.1116C>A ENSP00000366650.3:p.His372Gln
NM_001164716.1:c.1116C>A NP_001158188.1:p.His372Gln
NM_005609.2:c.1380C>A NP_005600.1:p.His460Gln
NM_005609.3:c.1380C>A NP_005600.1:p.His460Gln
NM_005609.4:c.1380C>A MANE Select NP_005600.1:p.His460Gln