Canonical Allele Identifier: CA6278552

Gene: PTS

Linked Data

• ClinVar Variation Id: 1560155
• ClinVar RCV Id: RCV002195455 ; RCV003923514
• dbSNP Id: rs773715386
• ExAC: 11:112103878 G / T
• gnomAD v2: 11-112103878-G-T
• gnomAD v4: 11-112233155-G-T
• MyVariant Identifiers: chr11:g.112103878G>T (hg19) ; chr11:g.112233155G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233155G>T , CM000673.2:g.112233155G>T	GRCh38
NC_000011.9:g.112103878G>T , CM000673.1:g.112103878G>T	GRCh37
NC_000011.8:g.111609088G>T	NCBI36
NG_008743.1:g.11791G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.244-8G>T MANE Select	ENSP00000280362.3:n.244-8G>T
ENST00000280362.7:c.244-8G>T	ENSP00000280362.3:n.244-8G>T
ENST00000524931.1:c.40-8G>T	ENSP00000434688.1:n.40-8G>T
ENST00000525803.1:c.164-8G>T	ENSP00000431750.1:n.164-8G>T
ENST00000527428.5:n.418-8G>T
ENST00000527635.1:n.285-8G>T
ENST00000528679.5:c.*53-8G>T	ENSP00000435895.1:n.*53-8G>T
ENST00000531175.1:n.195-8G>T
ENST00000531673.5:c.*53-8G>T	ENSP00000433469.1:n.*53-8G>T
NM_000317.2:c.244-8G>T	NP_000308.1:n.244-8G>T
XM_011542943.1:c.205-8G>T	XP_011541245.1:n.205-8G>T
NM_000317.3:c.244-8G>T MANE Select	NP_000308.1:n.244-8G>T