Canonical Allele Identifier: CA671775322

Gene: PTS

Linked Data

• dbSNP Id: rs1228539980
• gnomAD v4: 11-112233290-A-G
• MyVariant Identifiers: chr11:g.112104013A>G (hg19) ; chr11:g.112233290A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233290A>G , CM000673.2:g.112233290A>G	GRCh38
NC_000011.9:g.112104013A>G , CM000673.1:g.112104013A>G	GRCh37
NC_000011.8:g.111609223A>G	NCBI36
NG_008743.1:g.11926A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.314+57A>G MANE Select	ENSP00000280362.3:n.314+57A>G
ENST00000280362.7:c.314+57A>G	ENSP00000280362.3:n.314+57A>G
ENST00000524931.1:c.110+57A>G	ENSP00000434688.1:n.110+57A>G
ENST00000525803.1:c.*48+57A>G	ENSP00000431750.1:n.*48+57A>G
ENST00000527428.5:n.488+57A>G
ENST00000527635.1:n.355+57A>G
ENST00000528679.5:c.*123+57A>G	ENSP00000435895.1:n.*123+57A>G
ENST00000531175.1:n.322A>G
ENST00000531673.5:c.*123+57A>G	ENSP00000433469.1:n.*123+57A>G
NM_000317.2:c.314+57A>G	NP_000308.1:n.314+57A>G
XM_011542943.1:c.275+57A>G	XP_011541245.1:n.275+57A>G
NM_000317.3:c.314+57A>G MANE Select	NP_000308.1:n.314+57A>G