Canonical Allele Identifier: CA2000618409

Gene: PTS

Linked Data

• dbSNP Id: rs1859914444

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230301T>C , CM000673.2:g.112230301T>C	GRCh38
NC_000011.9:g.112101024T>C , CM000673.1:g.112101024T>C	GRCh37
NC_000011.8:g.111606234T>C	NCBI36
NG_008743.1:g.8937T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.186+71T>C MANE Select	ENSP00000280362.3:n.186+71T>C
ENST00000280362.7:c.186+71T>C	ENSP00000280362.3:n.186+71T>C
ENST00000524931.1:c.-19+71T>C	ENSP00000434688.1:n.-19+71T>C
ENST00000525803.1:c.163+1628T>C	ENSP00000431750.1:n.163+1628T>C
ENST00000527428.5:n.36T>C
ENST00000528679.5:c.164-325T>C	ENSP00000435895.1:n.164-325T>C
ENST00000531175.1:n.137+71T>C
ENST00000531673.5:c.164-325T>C	ENSP00000433469.1:n.164-325T>C
NM_000317.2:c.186+71T>C	NP_000308.1:n.186+71T>C
XM_011542943.1:c.147+71T>C	XP_011541245.1:n.147+71T>C
NM_000317.3:c.186+71T>C MANE Select	NP_000308.1:n.186+71T>C