Canonical Allele Identifier: CA671773688

Gene: PTS

Linked Data

• dbSNP Id: rs1177692284
• gnomAD v4: 11-112230274-C-A
• MyVariant Identifiers: chr11:g.112100997C>A (hg19) ; chr11:g.112230274C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230274C>A , CM000673.2:g.112230274C>A	GRCh38
NC_000011.9:g.112100997C>A , CM000673.1:g.112100997C>A	GRCh37
NC_000011.8:g.111606207C>A	NCBI36
NG_008743.1:g.8910C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.186+44C>A MANE Select	ENSP00000280362.3:n.186+44C>A
ENST00000280362.7:c.186+44C>A	ENSP00000280362.3:n.186+44C>A
ENST00000524931.1:c.-19+44C>A	ENSP00000434688.1:n.-19+44C>A
ENST00000525803.1:c.163+1601C>A	ENSP00000431750.1:n.163+1601C>A
ENST00000527428.5:n.9C>A
ENST00000528679.5:c.164-352C>A	ENSP00000435895.1:n.164-352C>A
ENST00000531175.1:n.137+44C>A
ENST00000531673.5:c.164-352C>A	ENSP00000433469.1:n.164-352C>A
NM_000317.2:c.186+44C>A	NP_000308.1:n.186+44C>A
XM_011542943.1:c.147+44C>A	XP_011541245.1:n.147+44C>A
NM_000317.3:c.186+44C>A MANE Select	NP_000308.1:n.186+44C>A