Canonical Allele Identifier: CA382627546

Gene: PTS

Linked Data

• dbSNP Id: rs1859913129
• MyVariant Identifiers: chr11:g.112100943T>C (hg19) ; chr11:g.112230220T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230220T>C , CM000673.2:g.112230220T>C	GRCh38
NC_000011.9:g.112100943T>C , CM000673.1:g.112100943T>C	GRCh37
NC_000011.8:g.111606153T>C	NCBI36
NG_008743.1:g.8856T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.176T>C MANE Select	ENSP00000280362.3:p.Val59Ala
ENST00000280362.7:c.176T>C	ENSP00000280362.3:p.Val59Ala
ENST00000524931.1:c.-29T>C	ENSP00000434688.1:n.-29T>C
ENST00000525803.1:c.163+1547T>C	ENSP00000431750.1:n.163+1547T>C
ENST00000528679.5:c.164-406T>C	ENSP00000435895.1:n.164-406T>C
ENST00000531175.1:n.127T>C
ENST00000531673.5:c.164-406T>C	ENSP00000433469.1:n.164-406T>C
NM_000317.2:c.176T>C	NP_000308.1:p.Val59Ala
XM_011542943.1:c.137T>C	XP_011541245.1:p.Val46Ala
NM_000317.3:c.176T>C MANE Select	NP_000308.1:p.Val59Ala