Canonical Allele Identifier: CA382627892

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112103942T>A (hg19) ; chr11:g.112233219T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233219T>A , CM000673.2:g.112233219T>A	GRCh38
NC_000011.9:g.112103942T>A , CM000673.1:g.112103942T>A	GRCh37
NC_000011.8:g.111609152T>A	NCBI36
NG_008743.1:g.11855T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.300T>A MANE Select	ENSP00000280362.3:p.Phe100Leu
ENST00000280362.7:c.300T>A	ENSP00000280362.3:p.Phe100Leu
ENST00000524931.1:c.96T>A	ENSP00000434688.1:p.Phe32Leu
ENST00000525803.1:c.*34T>A	ENSP00000431750.1:n.*34T>A
ENST00000527428.5:n.474T>A
ENST00000527635.1:n.341T>A
ENST00000528679.5:c.*109T>A	ENSP00000435895.1:n.*109T>A
ENST00000531175.1:n.251T>A
ENST00000531673.5:c.*109T>A	ENSP00000433469.1:n.*109T>A
NM_000317.2:c.300T>A	NP_000308.1:p.Phe100Leu
XM_011542943.1:c.261T>A	XP_011541245.1:p.Phe87Leu
NM_000317.3:c.300T>A MANE Select	NP_000308.1:p.Phe100Leu