Canonical Allele Identifier: CA382627753

Gene: PTS

Linked Data

• gnomAD v4: 11-112233164-A-T
• MyVariant Identifiers: chr11:g.112103887A>T (hg19) ; chr11:g.112233164A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233164A>T , CM000673.2:g.112233164A>T	GRCh38
NC_000011.9:g.112103887A>T , CM000673.1:g.112103887A>T	GRCh37
NC_000011.8:g.111609097A>T	NCBI36
NG_008743.1:g.11800A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.245A>T MANE Select	ENSP00000280362.3:p.Glu82Val
ENST00000280362.7:c.245A>T	ENSP00000280362.3:p.Glu82Val
ENST00000524931.1:c.41A>T	ENSP00000434688.1:p.Glu14Val
ENST00000525803.1:c.165A>T	ENSP00000431750.1:p.Gly55=
ENST00000527428.5:n.419A>T
ENST00000527635.1:n.286A>T
ENST00000528679.5:c.*54A>T	ENSP00000435895.1:n.*54A>T
ENST00000531175.1:n.196A>T
ENST00000531673.5:c.*54A>T	ENSP00000433469.1:n.*54A>T
NM_000317.2:c.245A>T	NP_000308.1:p.Glu82Val
XM_011542943.1:c.206A>T	XP_011541245.1:p.Glu69Val
NM_000317.3:c.245A>T MANE Select	NP_000308.1:p.Glu82Val