Canonical Allele Identifier: CA114322
Gene: PTS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 483
dbSNP Id: rs104894279

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112233464A>G , CM000673.2:g.112233464A>G GRCh38
NC_000011.9:g.112104187A>G , CM000673.1:g.112104187A>G GRCh37
NC_000011.8:g.111609397A>G NCBI36
NG_008743.1:g.12100A>G

Transcript Alleles

HGVS Amino-acid change
NM_000317.2:c.347A>G VV NP_000308.1:p.Asp116Gly
XM_011542943.1:c.308A>G XP_011541245.1:p.Asp103Gly
NM_000317.3:c.347A>G VV MANE Preferred
ENST00000280362.7:c.347A>G ENSP00000280362.3:p.Asp116Gly
ENST00000524931.1:c.143A>G ENSP00000434688.1:p.Asp48Gly
ENST00000525803.1:c.*81A>G ENSP00000431750.1:p.=
ENST00000527428.5:n.488+231A>G
ENST00000527635.1:n.388A>G
ENST00000528679.5:c.*156A>G ENSP00000435895.1:p.=
ENST00000531673.5:c.*123+231A>G ENSP00000433469.1:p.=