Canonical Allele Identifier: CA2616001403

Gene: PTS

Linked Data

• gnomAD v4: 11-112233048-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233048C>G , CM000673.2:g.112233048C>G	GRCh38
NC_000011.9:g.112103771C>G , CM000673.1:g.112103771C>G	GRCh37
NC_000011.8:g.111608981C>G	NCBI36
NG_008743.1:g.11684C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.244-115C>G MANE Select	ENSP00000280362.3:n.244-115C>G
ENST00000280362.7:c.244-115C>G	ENSP00000280362.3:n.244-115C>G
ENST00000524931.1:c.40-115C>G	ENSP00000434688.1:n.40-115C>G
ENST00000525803.1:c.164-115C>G	ENSP00000431750.1:n.164-115C>G
ENST00000527428.5:n.418-115C>G
ENST00000527635.1:n.285-115C>G
ENST00000528679.5:c.*53-115C>G	ENSP00000435895.1:n.*53-115C>G
ENST00000531175.1:n.195-115C>G
ENST00000531673.5:c.*53-115C>G	ENSP00000433469.1:n.*53-115C>G
NM_000317.2:c.244-115C>G	NP_000308.1:n.244-115C>G
XM_011542943.1:c.205-115C>G	XP_011541245.1:n.205-115C>G
NM_000317.3:c.244-115C>G MANE Select	NP_000308.1:n.244-115C>G