Canonical Allele Identifier: CA399927964

Gene: DGKE TRIM25

Linked Data

• ClinVar Variation Id: 1032143
• ClinVar RCV Id: RCV001334159 ; RCV002546673
• dbSNP Id: rs1907467218
• gnomAD v3: 17-56848802-T-C
• gnomAD v4: 17-56848802-T-C
• MyVariant Identifiers: chr17:g.54926163T>C (hg19) ; chr17:g.56848802T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56848802T>C , CM000679.2:g.56848802T>C	GRCh38
NC_000017.10:g.54926163T>C , CM000679.1:g.54926163T>C	GRCh37
NC_000017.9:g.52281162T>C	NCBI36
NG_033888.1:g.19704T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000284061.8:c.995T>C (DGKE) MANE Select	ENSP00000284061.3:p.Val332Ala
ENST00000648772.1:c.*313+3141A>G (TRIM25)	ENSP00000498158.1:n.*313+3141A>G
ENST00000284061.7:c.995T>C (DGKE)	ENSP00000284061.3:p.Val332Ala
ENST00000572944.1:c.825T>C (DGKE)
NM_003647.2:c.995T>C (DGKE)	NP_003638.1:p.Val332Ala
XM_011525394.1:c.1049T>C (DGKE)	XP_011523696.1:p.Val350Ala
XM_011525395.1:c.1049T>C (DGKE)	XP_011523697.1:p.Val350Ala
XM_011525396.1:c.1049T>C (DGKE)	XP_011523698.1:p.Val350Ala
XM_011525397.1:c.1049T>C (DGKE)	XP_011523699.1:p.Val350Ala
XM_011525398.1:c.539T>C (DGKE)	XP_011523700.1:p.Val180Ala
XR_934581.1:n.1148T>C (DGKE)
XM_011525394.3:c.1049T>C (DGKE)	XP_011523696.1:p.Val350Ala
XM_011525395.2:c.1049T>C (DGKE)	XP_011523697.1:p.Val350Ala
XM_011525396.2:c.1049T>C (DGKE)	XP_011523698.1:p.Val350Ala
XM_017025243.2:c.1367T>C (DGKE)	XP_016880732.1:p.Val456Ala
XM_017025244.2:c.1049T>C (DGKE)	XP_016880733.1:p.Val350Ala
XR_001752670.2:n.1553T>C (DGKE)
XR_001752671.1:n.1160T>C (DGKE)
XR_001752672.1:n.1161T>C (DGKE)
XR_002958079.1:n.1159T>C (DGKE)
NM_003647.3:c.995T>C (DGKE) MANE Select	NP_003638.1:p.Val332Ala