Canonical Allele Identifier: CA654617782

Gene: PTS

Linked Data

• COSMIC: COSN20056982

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233279T>G , CM000673.2:g.112233279T>G	GRCh38
NC_000011.9:g.112104002T>G , CM000673.1:g.112104002T>G	GRCh37
NC_000011.8:g.111609212T>G	NCBI36
NG_008743.1:g.11915T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.314+46T>G MANE Select	ENSP00000280362.3:n.314+46T>G
ENST00000280362.7:c.314+46T>G	ENSP00000280362.3:n.314+46T>G
ENST00000524931.1:c.110+46T>G	ENSP00000434688.1:n.110+46T>G
ENST00000525803.1:c.*48+46T>G	ENSP00000431750.1:n.*48+46T>G
ENST00000527428.5:n.488+46T>G
ENST00000527635.1:n.355+46T>G
ENST00000528679.5:c.*123+46T>G	ENSP00000435895.1:n.*123+46T>G
ENST00000531175.1:n.311T>G
ENST00000531673.5:c.*123+46T>G	ENSP00000433469.1:n.*123+46T>G
NM_000317.2:c.314+46T>G	NP_000308.1:n.314+46T>G
XM_011542943.1:c.275+46T>G	XP_011541245.1:n.275+46T>G
NM_000317.3:c.314+46T>G MANE Select	NP_000308.1:n.314+46T>G