Canonical Allele Identifier: CA381169105
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751403C>G , CM000673.2:g.64751403C>G GRCh38
NC_000011.9:g.64518875C>G , CM000673.1:g.64518875C>G GRCh37
NC_000011.8:g.64275451C>G NCBI36
NG_013018.1:g.14313G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1891G>C MANE Select ENSP00000164139.3:p.Val631Leu
ENST00000164139.3:c.1891G>C ENSP00000164139.3:p.Val631Leu
ENST00000377432.7:c.1627G>C ENSP00000366650.3:p.Val543Leu
ENST00000462303.1:n.215G>C
NM_001164716.1:c.1627G>C NP_001158188.1:p.Val543Leu
NM_005609.2:c.1891G>C NP_005600.1:p.Val631Leu
NM_005609.3:c.1891G>C NP_005600.1:p.Val631Leu
NM_005609.4:c.1891G>C MANE Select NP_005600.1:p.Val631Leu