Canonical Allele Identifier: CA2616001181

Gene: PTS

Linked Data

• gnomAD v4: 11-112230599-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230599T>C , CM000673.2:g.112230599T>C	GRCh38
NC_000011.9:g.112101322T>C , CM000673.1:g.112101322T>C	GRCh37
NC_000011.8:g.111606532T>C	NCBI36
NG_008743.1:g.9235T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.187-27T>C MANE Select	ENSP00000280362.3:n.187-27T>C
ENST00000280362.7:c.187-27T>C	ENSP00000280362.3:n.187-27T>C
ENST00000524931.1:c.-18-27T>C	ENSP00000434688.1:n.-18-27T>C
ENST00000525803.1:c.163+1926T>C	ENSP00000431750.1:n.163+1926T>C
ENST00000527428.5:n.334T>C
ENST00000527635.1:n.201T>C
ENST00000528679.5:c.164-27T>C	ENSP00000435895.1:n.164-27T>C
ENST00000531175.1:n.138-27T>C
ENST00000531673.5:c.164-27T>C	ENSP00000433469.1:n.164-27T>C
NM_000317.2:c.187-27T>C	NP_000308.1:n.187-27T>C
XM_011542943.1:c.148-27T>C	XP_011541245.1:n.148-27T>C
NM_000317.3:c.187-27T>C MANE Select	NP_000308.1:n.187-27T>C