Canonical Allele Identifier: CA382627104

Gene: PTS

Linked Data

• ClinVar Variation Id: 1476325
• ClinVar RCV Id: RCV001977897
• dbSNP Id: rs2135408273
• MyVariant Identifiers: chr11:g.112099382G>A (hg19) ; chr11:g.112228659G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228659G>A , CM000673.2:g.112228659G>A	GRCh38
NC_000011.9:g.112099382G>A , CM000673.1:g.112099382G>A	GRCh37
NC_000011.8:g.111604592G>A	NCBI36
NG_008743.1:g.7295G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.149G>A MANE Select	ENSP00000280362.3:p.Gly50Glu
ENST00000280362.7:c.149G>A	ENSP00000280362.3:p.Gly50Glu
ENST00000524931.1:c.-56G>A	ENSP00000434688.1:n.-56G>A
ENST00000525645.1:n.224G>A
ENST00000525803.1:c.149G>A	ENSP00000431750.1:p.Gly50Glu
ENST00000528679.5:c.149G>A	ENSP00000435895.1:p.Gly50Glu
ENST00000531673.5:c.149G>A	ENSP00000433469.1:p.Gly50Glu
NM_000317.2:c.149G>A	NP_000308.1:p.Gly50Glu
NM_000317.3:c.149G>A MANE Select	NP_000308.1:p.Gly50Glu