Canonical Allele Identifier: CA2602769781

Gene: PTS

Linked Data

• dbSNP Id: rs2135410279
• gnomAD v3: 11-112233151-T-G
• gnomAD v4: 11-112233151-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233151T>G , CM000673.2:g.112233151T>G	GRCh38
NC_000011.9:g.112103874T>G , CM000673.1:g.112103874T>G	GRCh37
NC_000011.8:g.111609084T>G	NCBI36
NG_008743.1:g.11787T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.244-12T>G MANE Select	ENSP00000280362.3:n.244-12T>G
ENST00000280362.7:c.244-12T>G	ENSP00000280362.3:n.244-12T>G
ENST00000524931.1:c.40-12T>G	ENSP00000434688.1:n.40-12T>G
ENST00000525803.1:c.164-12T>G	ENSP00000431750.1:n.164-12T>G
ENST00000527428.5:n.418-12T>G
ENST00000527635.1:n.285-12T>G
ENST00000528679.5:c.*53-12T>G	ENSP00000435895.1:n.*53-12T>G
ENST00000531175.1:n.195-12T>G
ENST00000531673.5:c.*53-12T>G	ENSP00000433469.1:n.*53-12T>G
NM_000317.2:c.244-12T>G	NP_000308.1:n.244-12T>G
XM_011542943.1:c.205-12T>G	XP_011541245.1:n.205-12T>G
NM_000317.3:c.244-12T>G MANE Select	NP_000308.1:n.244-12T>G