Canonical Allele Identifier: CA382626506

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112097226C>G (hg19) ; chr11:g.112226503C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112226503C>G , CM000673.2:g.112226503C>G	GRCh38
NC_000011.9:g.112097226C>G , CM000673.1:g.112097226C>G	GRCh37
NC_000011.8:g.111602436C>G	NCBI36
NG_008743.1:g.5139C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.60C>G MANE Select	ENSP00000280362.3:p.Phe20Leu
ENST00000280362.7:c.60C>G	ENSP00000280362.3:p.Phe20Leu
ENST00000525645.1:n.135C>G
ENST00000525803.1:c.60C>G	ENSP00000431750.1:p.Phe20Leu
ENST00000528679.5:c.60C>G	ENSP00000435895.1:p.Phe20Leu
ENST00000531673.5:c.60C>G	ENSP00000433469.1:p.Phe20Leu
NM_000317.2:c.60C>G	NP_000308.1:p.Phe20Leu
NM_000317.3:c.60C>G MANE Select	NP_000308.1:p.Phe20Leu