Canonical Allele Identifier: CA16042731
Gene: PTS HGNC NCBI

Linked Data

ClinVar Variation Id: 372485
dbSNP Id: rs1057517811

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112233200A>G , CM000673.2:g.112233200A>G GRCh38
NC_000011.9:g.112103923A>G , CM000673.1:g.112103923A>G GRCh37
NC_000011.8:g.111609133A>G NCBI36
NG_008743.1:g.11836A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000280362.8:c.281A>G MANE Select ENSP00000280362.3:p.Asp94Gly
ENST00000280362.7:c.281A>G ENSP00000280362.3:p.Asp94Gly
ENST00000524931.1:c.77A>G ENSP00000434688.1:p.Asp26Gly
ENST00000525803.1:c.*15A>G ENSP00000431750.1:n.*15A>G
ENST00000527428.5:n.455A>G
ENST00000527635.1:n.322A>G
ENST00000528679.5:c.*90A>G ENSP00000435895.1:n.*90A>G
ENST00000531175.1:n.232A>G
ENST00000531673.5:c.*90A>G ENSP00000433469.1:n.*90A>G
NM_000317.2:c.281A>G NP_000308.1:p.Asp94Gly
XM_011542943.1:c.242A>G XP_011541245.1:p.Asp81Gly
NM_000317.3:c.281A>G MANE Select NP_000308.1:p.Asp94Gly