Canonical Allele Identifier: CA2616001573

Gene: PTS

Linked Data

• gnomAD v4: 11-112233273-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233273C>A , CM000673.2:g.112233273C>A	GRCh38
NC_000011.9:g.112103996C>A , CM000673.1:g.112103996C>A	GRCh37
NC_000011.8:g.111609206C>A	NCBI36
NG_008743.1:g.11909C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.314+40C>A MANE Select	ENSP00000280362.3:n.314+40C>A
ENST00000280362.7:c.314+40C>A	ENSP00000280362.3:n.314+40C>A
ENST00000524931.1:c.110+40C>A	ENSP00000434688.1:n.110+40C>A
ENST00000525803.1:c.*48+40C>A	ENSP00000431750.1:n.*48+40C>A
ENST00000527428.5:n.488+40C>A
ENST00000527635.1:n.355+40C>A
ENST00000528679.5:c.*123+40C>A	ENSP00000435895.1:n.*123+40C>A
ENST00000531175.1:n.305C>A
ENST00000531673.5:c.*123+40C>A	ENSP00000433469.1:n.*123+40C>A
NM_000317.2:c.314+40C>A	NP_000308.1:n.314+40C>A
XM_011542943.1:c.275+40C>A	XP_011541245.1:n.275+40C>A
NM_000317.3:c.314+40C>A MANE Select	NP_000308.1:n.314+40C>A