Canonical Allele Identifier: CA2616001569

Gene: PTS

Linked Data

• gnomAD v4: 11-112233272-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233272A>C , CM000673.2:g.112233272A>C	GRCh38
NC_000011.9:g.112103995A>C , CM000673.1:g.112103995A>C	GRCh37
NC_000011.8:g.111609205A>C	NCBI36
NG_008743.1:g.11908A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.314+39A>C MANE Select	ENSP00000280362.3:n.314+39A>C
ENST00000280362.7:c.314+39A>C	ENSP00000280362.3:n.314+39A>C
ENST00000524931.1:c.110+39A>C	ENSP00000434688.1:n.110+39A>C
ENST00000525803.1:c.*48+39A>C	ENSP00000431750.1:n.*48+39A>C
ENST00000527428.5:n.488+39A>C
ENST00000527635.1:n.355+39A>C
ENST00000528679.5:c.*123+39A>C	ENSP00000435895.1:n.*123+39A>C
ENST00000531175.1:n.304A>C
ENST00000531673.5:c.*123+39A>C	ENSP00000433469.1:n.*123+39A>C
NM_000317.2:c.314+39A>C	NP_000308.1:n.314+39A>C
XM_011542943.1:c.275+39A>C	XP_011541245.1:n.275+39A>C
NM_000317.3:c.314+39A>C MANE Select	NP_000308.1:n.314+39A>C