Canonical Allele Identifier: CA114316
Gene: PTS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 476
ClinVar RCV Id: RCV000000505
dbSNP Id: rs104894273

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112226517G>A , CM000673.2:g.112226517G>A GRCh38
NC_000011.9:g.112097240G>A , CM000673.1:g.112097240G>A GRCh37
NC_000011.8:g.111602450G>A NCBI36
NG_008743.1:g.5153G>A

Transcript Alleles

HGVS Amino-acid change
NM_000317.2:c.74G>A VV NP_000308.1:p.Arg25Gln
NM_000317.3:c.74G>A VV MANE Preferred NP_000308.1:p.Arg25Gln
ENST00000280362.7:c.74G>A ENSP00000280362.3:p.Arg25Gln
ENST00000525645.1:n.149G>A
ENST00000525803.1:c.74G>A ENSP00000431750.1:p.Arg25Gln
ENST00000528679.5:c.74G>A ENSP00000435895.1:p.Arg25Gln
ENST00000531673.5:c.74G>A ENSP00000433469.1:p.Arg25Gln