Canonical Allele Identifier: CA143789

Gene: DGKE TRIM25

Linked Data

• ClinVar Variation Id: 50790
• ClinVar RCV Id: RCV000043571 ; RCV000122615
• dbSNP Id: rs312262695
• MyVariant Identifiers: chr17:g.54925356G>C (hg19) ; chr17:g.56847995G>C (hg38)
• PubMed: PMID:23542698 ; PMID:24747643

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56847995G>C , CM000679.2:g.56847995G>C	GRCh38
NC_000017.10:g.54925356G>C , CM000679.1:g.54925356G>C	GRCh37
NC_000017.9:g.52280355G>C	NCBI36
NG_033888.1:g.18897G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284061.8:c.818G>C (DGKE) MANE Select	ENSP00000284061.3:p.Arg273Pro
ENST00000648772.1:c.*313+3948C>G (TRIM25)	ENSP00000498158.1:n.*313+3948C>G
ENST00000284061.7:c.818G>C (DGKE)	ENSP00000284061.3:p.Arg273Pro
ENST00000572944.1:c.648G>C (DGKE)
NM_003647.2:c.818G>C (DGKE)	NP_003638.1:p.Arg273Pro
XM_011525394.1:c.872G>C (DGKE)	XP_011523696.1:p.Arg291Pro
XM_011525395.1:c.872G>C (DGKE)	XP_011523697.1:p.Arg291Pro
XM_011525396.1:c.872G>C (DGKE)	XP_011523698.1:p.Arg291Pro
XM_011525397.1:c.872G>C (DGKE)	XP_011523699.1:p.Arg291Pro
XM_011525398.1:c.362G>C (DGKE)	XP_011523700.1:p.Arg121Pro
XR_934581.1:n.971G>C (DGKE)
XM_011525394.3:c.872G>C (DGKE)	XP_011523696.1:p.Arg291Pro
XM_011525395.2:c.872G>C (DGKE)	XP_011523697.1:p.Arg291Pro
XM_011525396.2:c.872G>C (DGKE)	XP_011523698.1:p.Arg291Pro
XM_017025243.2:c.818G>C (DGKE)	XP_016880732.1:p.Arg273Pro
XM_017025244.2:c.872G>C (DGKE)	XP_016880733.1:p.Arg291Pro
XR_001752670.2:n.1004G>C (DGKE)
XR_001752671.1:n.983G>C (DGKE)
XR_001752672.1:n.984G>C (DGKE)
XR_002958079.1:n.982G>C (DGKE)
NM_003647.3:c.818G>C (DGKE) MANE Select	NP_003638.1:p.Arg273Pro