Canonical Allele Identifier: CA382627893

Gene: PTS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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