Canonical Allele Identifier: CA6278481
Gene: PTS HGNC NCBI

Linked Data

ClinVar Variation Id: 302498
dbSNP Id: rs3819331

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228687T>C , CM000673.2:g.112228687T>C GRCh38
NC_000011.9:g.112099410T>C , CM000673.1:g.112099410T>C GRCh37
NC_000011.8:g.111604620T>C NCBI36
NG_008743.1:g.7323T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000280362.8:c.163+14T>C MANE Select ENSP00000280362.3:n.163+14T>C
ENST00000280362.7:c.163+14T>C ENSP00000280362.3:n.163+14T>C
ENST00000524931.1:c.-42+14T>C ENSP00000434688.1:n.-42+14T>C
ENST00000525645.1:n.252T>C
ENST00000525803.1:c.163+14T>C ENSP00000431750.1:n.163+14T>C
ENST00000528679.5:c.163+14T>C ENSP00000435895.1:n.163+14T>C
ENST00000531673.5:c.163+14T>C ENSP00000433469.1:n.163+14T>C
NM_000317.2:c.163+14T>C NP_000308.1:n.163+14T>C
XM_011542943.1:c.-676T>C XP_011541245.1:n.-676T>C
NM_000317.3:c.163+14T>C MANE Select NP_000308.1:n.163+14T>C