Canonical Allele Identifier: CA476797401

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112100938G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230215G>A , CM000673.2:g.112230215G>A	GRCh38
NC_000011.9:g.112100938G>A , CM000673.1:g.112100938G>A	GRCh37
NC_000011.8:g.111606148G>A	NCBI36
NG_008743.1:g.8851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.171G>A MANE Select	ENSP00000280362.3:p.Val57=
ENST00000280362.7:c.171G>A	ENSP00000280362.3:p.Val57=
ENST00000524931.1:c.-34G>A	ENSP00000434688.1:n.-34G>A
ENST00000525803.1:c.163+1542G>A	ENSP00000431750.1:n.163+1542G>A
ENST00000528679.5:c.164-411G>A	ENSP00000435895.1:n.164-411G>A
ENST00000531175.1:n.122G>A
ENST00000531673.5:c.164-411G>A	ENSP00000433469.1:n.164-411G>A
NM_000317.2:c.171G>A	NP_000308.1:p.Val57=
XM_011542943.1:c.132G>A	XP_011541245.1:p.Val44=
NM_000317.3:c.171G>A MANE Select	NP_000308.1:p.Val57=