Canonical Allele Identifier: CA2616000005

Gene: PTS

Linked Data

• gnomAD v4: 11-112228680-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228680G>T , CM000673.2:g.112228680G>T	GRCh38
NC_000011.9:g.112099403G>T , CM000673.1:g.112099403G>T	GRCh37
NC_000011.8:g.111604613G>T	NCBI36
NG_008743.1:g.7316G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.163+7G>T MANE Select	ENSP00000280362.3:n.163+7G>T
ENST00000280362.7:c.163+7G>T	ENSP00000280362.3:n.163+7G>T
ENST00000524931.1:c.-42+7G>T	ENSP00000434688.1:n.-42+7G>T
ENST00000525645.1:n.245G>T
ENST00000525803.1:c.163+7G>T	ENSP00000431750.1:n.163+7G>T
ENST00000528679.5:c.163+7G>T	ENSP00000435895.1:n.163+7G>T
ENST00000531673.5:c.163+7G>T	ENSP00000433469.1:n.163+7G>T
NM_000317.2:c.163+7G>T	NP_000308.1:n.163+7G>T
XM_011542943.1:c.-683G>T	XP_011541245.1:n.-683G>T
NM_000317.3:c.163+7G>T MANE Select	NP_000308.1:n.163+7G>T