Canonical Allele Identifier: CA339962
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2299
dbSNP Id: rs119103251

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64757826C>T , CM000673.2:g.64757826C>T GRCh38
NC_000011.9:g.64525298C>T , CM000673.1:g.64525298C>T GRCh37
NC_000011.8:g.64281874C>T NCBI36
NG_013018.1:g.7890G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.613G>A MANE Select ENSP00000164139.3:p.Gly205Ser
ENST00000164139.3:c.613G>A ENSP00000164139.3:p.Gly205Ser
ENST00000377432.7:c.349G>A ENSP00000366650.3:p.Gly117Ser
NM_001164716.1:c.349G>A NP_001158188.1:p.Gly117Ser
NM_005609.2:c.613G>A NP_005600.1:p.Gly205Ser
NM_005609.3:c.613G>A NP_005600.1:p.Gly205Ser
NM_005609.4:c.613G>A MANE Select NP_005600.1:p.Gly205Ser