Canonical Allele Identifier: CA382627785

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112103899A>G (hg19) ; chr11:g.112233176A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233176A>G , CM000673.2:g.112233176A>G	GRCh38
NC_000011.9:g.112103899A>G , CM000673.1:g.112103899A>G	GRCh37
NC_000011.8:g.111609109A>G	NCBI36
NG_008743.1:g.11812A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.257A>G MANE Select	ENSP00000280362.3:p.Gln86Arg
ENST00000280362.7:c.257A>G	ENSP00000280362.3:p.Gln86Arg
ENST00000524931.1:c.53A>G	ENSP00000434688.1:p.Gln18Arg
ENST00000525803.1:c.177A>G	ENSP00000431750.1:p.Ala59=
ENST00000527428.5:n.431A>G
ENST00000527635.1:n.298A>G
ENST00000528679.5:c.*66A>G	ENSP00000435895.1:n.*66A>G
ENST00000531175.1:n.208A>G
ENST00000531673.5:c.*66A>G	ENSP00000433469.1:n.*66A>G
NM_000317.2:c.257A>G	NP_000308.1:p.Gln86Arg
XM_011542943.1:c.218A>G	XP_011541245.1:p.Gln73Arg
NM_000317.3:c.257A>G MANE Select	NP_000308.1:p.Gln86Arg