Canonical Allele Identifier: CA381112997
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2202663
ClinVar RCV Id: RCV002664139
dbSNP Id: rs1305717617

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759819T>C , CM000673.2:g.64759819T>C GRCh38
NC_000011.9:g.64527291T>C , CM000673.1:g.64527291T>C GRCh37
NC_000011.8:g.64283867T>C NCBI36
NG_013018.1:g.5897A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.80A>G MANE Select ENSP00000164139.3:p.Glu27Gly
ENST00000164139.3:c.80A>G ENSP00000164139.3:p.Glu27Gly
ENST00000377432.7:c.80A>G ENSP00000366650.3:p.Glu27Gly
NM_001164716.1:c.80A>G NP_001158188.1:p.Glu27Gly
NM_005609.2:c.80A>G NP_005600.1:p.Glu27Gly
NM_005609.3:c.80A>G NP_005600.1:p.Glu27Gly
NM_005609.4:c.80A>G MANE Select NP_005600.1:p.Glu27Gly