Canonical Allele Identifier: CA382627533

Gene: PTS

Linked Data

• dbSNP Id: rs1282312729
• MyVariant Identifiers: chr11:g.112100940C>A (hg19) ; chr11:g.112230217C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230217C>A , CM000673.2:g.112230217C>A	GRCh38
NC_000011.9:g.112100940C>A , CM000673.1:g.112100940C>A	GRCh37
NC_000011.8:g.111606150C>A	NCBI36
NG_008743.1:g.8853C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.173C>A MANE Select	ENSP00000280362.3:p.Thr58Lys
ENST00000280362.7:c.173C>A	ENSP00000280362.3:p.Thr58Lys
ENST00000524931.1:c.-32C>A	ENSP00000434688.1:n.-32C>A
ENST00000525803.1:c.163+1544C>A	ENSP00000431750.1:n.163+1544C>A
ENST00000528679.5:c.164-409C>A	ENSP00000435895.1:n.164-409C>A
ENST00000531175.1:n.124C>A
ENST00000531673.5:c.164-409C>A	ENSP00000433469.1:n.164-409C>A
NM_000317.2:c.173C>A	NP_000308.1:p.Thr58Lys
XM_011542943.1:c.134C>A	XP_011541245.1:p.Thr45Lys
NM_000317.3:c.173C>A MANE Select	NP_000308.1:p.Thr58Lys