Canonical Allele Identifier: CA2616000786

Gene: PTS

Linked Data

• gnomAD v4: 11-112230264-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230264G>C , CM000673.2:g.112230264G>C	GRCh38
NC_000011.9:g.112100987G>C , CM000673.1:g.112100987G>C	GRCh37
NC_000011.8:g.111606197G>C	NCBI36
NG_008743.1:g.8900G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.186+34G>C MANE Select	ENSP00000280362.3:n.186+34G>C
ENST00000280362.7:c.186+34G>C	ENSP00000280362.3:n.186+34G>C
ENST00000524931.1:c.-19+34G>C	ENSP00000434688.1:n.-19+34G>C
ENST00000525803.1:c.163+1591G>C	ENSP00000431750.1:n.163+1591G>C
ENST00000528679.5:c.164-362G>C	ENSP00000435895.1:n.164-362G>C
ENST00000531175.1:n.137+34G>C
ENST00000531673.5:c.164-362G>C	ENSP00000433469.1:n.164-362G>C
NM_000317.2:c.186+34G>C	NP_000308.1:n.186+34G>C
XM_011542943.1:c.147+34G>C	XP_011541245.1:n.147+34G>C
NM_000317.3:c.186+34G>C MANE Select	NP_000308.1:n.186+34G>C