Canonical Allele Identifier: CA6278451

Gene: PTS

Linked Data

• dbSNP Id: rs757192704
• ExAC: 11:112099306 T / A
• gnomAD v2: 11-112099306-T-A
• gnomAD v4: 11-112228583-T-A
• MyVariant Identifiers: chr11:g.112099306T>A (hg19) ; chr11:g.112228583T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228583T>A , CM000673.2:g.112228583T>A	GRCh38
NC_000011.9:g.112099306T>A , CM000673.1:g.112099306T>A	GRCh37
NC_000011.8:g.111604516T>A	NCBI36
NG_008743.1:g.7219T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.84-11T>A MANE Select	ENSP00000280362.3:n.84-11T>A
ENST00000280362.7:c.84-11T>A	ENSP00000280362.3:n.84-11T>A
ENST00000524931.1:c.-121-11T>A	ENSP00000434688.1:n.-121-11T>A
ENST00000525645.1:n.159-11T>A
ENST00000525803.1:c.84-11T>A	ENSP00000431750.1:n.84-11T>A
ENST00000528679.5:c.84-11T>A	ENSP00000435895.1:n.84-11T>A
ENST00000531673.5:c.84-11T>A	ENSP00000433469.1:n.84-11T>A
NM_000317.2:c.84-11T>A	NP_000308.1:n.84-11T>A
NM_000317.3:c.84-11T>A MANE Select	NP_000308.1:n.84-11T>A