Canonical Allele Identifier: CA382628026

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112104195C>A (hg19) ; chr11:g.112233472C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233472C>A , CM000673.2:g.112233472C>A	GRCh38
NC_000011.9:g.112104195C>A , CM000673.1:g.112104195C>A	GRCh37
NC_000011.8:g.111609405C>A	NCBI36
NG_008743.1:g.12108C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.355C>A MANE Select	ENSP00000280362.3:p.Gln119Lys
ENST00000280362.7:c.355C>A	ENSP00000280362.3:p.Gln119Lys
ENST00000524931.1:c.151C>A	ENSP00000434688.1:p.Gln51Lys
ENST00000525803.1:c.*89C>A	ENSP00000431750.1:n.*89C>A
ENST00000527428.5:n.488+239C>A
ENST00000527635.1:n.396C>A
ENST00000528679.5:c.*164C>A	ENSP00000435895.1:n.*164C>A
ENST00000531673.5:c.*123+239C>A	ENSP00000433469.1:n.*123+239C>A
NM_000317.2:c.355C>A	NP_000308.1:p.Gln119Lys
XM_011542943.1:c.316C>A	XP_011541245.1:p.Gln106Lys
NM_000317.3:c.355C>A MANE Select	NP_000308.1:p.Gln119Lys