Canonical Allele Identifier: CA382627913

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112103952G>A (hg19) ; chr11:g.112233229G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233229G>A , CM000673.2:g.112233229G>A	GRCh38
NC_000011.9:g.112103952G>A , CM000673.1:g.112103952G>A	GRCh37
NC_000011.8:g.111609162G>A	NCBI36
NG_008743.1:g.11865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.310G>A MANE Select	ENSP00000280362.3:p.Val104Met
ENST00000280362.7:c.310G>A	ENSP00000280362.3:p.Val104Met
ENST00000524931.1:c.106G>A	ENSP00000434688.1:p.Val36Met
ENST00000525803.1:c.*44G>A	ENSP00000431750.1:n.*44G>A
ENST00000527428.5:n.484G>A
ENST00000527635.1:n.351G>A
ENST00000528679.5:c.*119G>A	ENSP00000435895.1:n.*119G>A
ENST00000531175.1:n.261G>A
ENST00000531673.5:c.*119G>A	ENSP00000433469.1:n.*119G>A
NM_000317.2:c.310G>A	NP_000308.1:p.Val104Met
XM_011542943.1:c.271G>A	XP_011541245.1:p.Val91Met
NM_000317.3:c.310G>A MANE Select	NP_000308.1:p.Val104Met