Canonical Allele Identifier: CA399926672

Gene: DGKE TRIM25

Linked Data

• ClinVar Variation Id: 3055880
• ClinVar RCV Id: RCV003972217
• dbSNP Id: rs1907241229
• MyVariant Identifiers: chr17:g.54923066G>C (hg19) ; chr17:g.56845705G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56845705G>C , CM000679.2:g.56845705G>C	GRCh38
NC_000017.10:g.54923066G>C , CM000679.1:g.54923066G>C	GRCh37
NC_000017.9:g.52278065G>C	NCBI36
NG_033888.1:g.16607G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284061.8:c.640G>C (DGKE) MANE Select	ENSP00000284061.3:p.Gly214Arg
ENST00000648772.1:c.*314-1915C>G (TRIM25)	ENSP00000498158.1:n.*314-1915C>G
ENST00000284061.7:c.640G>C (DGKE)	ENSP00000284061.3:p.Gly214Arg
ENST00000571084.1:n.176G>C (DGKE)
ENST00000572944.1:c.470G>C (DGKE)
ENST00000576869.5:n.788G>C (DGKE)
NM_003647.2:c.640G>C (DGKE)	NP_003638.1:p.Gly214Arg
XM_011525394.1:c.694G>C (DGKE)	XP_011523696.1:p.Gly232Arg
XM_011525395.1:c.694G>C (DGKE)	XP_011523697.1:p.Gly232Arg
XM_011525396.1:c.694G>C (DGKE)	XP_011523698.1:p.Gly232Arg
XM_011525397.1:c.694G>C (DGKE)	XP_011523699.1:p.Gly232Arg
XM_011525398.1:c.184G>C (DGKE)	XP_011523700.1:p.Gly62Arg
XR_934581.1:n.793G>C (DGKE)
XM_011525394.3:c.694G>C (DGKE)	XP_011523696.1:p.Gly232Arg
XM_011525395.2:c.694G>C (DGKE)	XP_011523697.1:p.Gly232Arg
XM_011525396.2:c.694G>C (DGKE)	XP_011523698.1:p.Gly232Arg
XM_017025243.2:c.640G>C (DGKE)	XP_016880732.1:p.Gly214Arg
XM_017025244.2:c.694G>C (DGKE)	XP_016880733.1:p.Gly232Arg
XR_001752670.2:n.826G>C (DGKE)
XR_001752671.1:n.805G>C (DGKE)
XR_001752672.1:n.806G>C (DGKE)
XR_002958079.1:n.804G>C (DGKE)
NM_003647.3:c.640G>C (DGKE) MANE Select	NP_003638.1:p.Gly214Arg