Canonical Allele Identifier: CA332175

Gene: DGKE TRIM25

Linked Data

• ClinVar Variation Id: 135641
• ClinVar RCV Id: RCV000043567 ; RCV000122617 ; RCV000760165 ; RCV001854681
• dbSNP Id: rs138924661
• ExAC: 17:54926134 G / A
• gnomAD v2: 17-54926134-G-A
• gnomAD v3: 17-56848773-G-A
• gnomAD v4: 17-56848773-G-A
• MyVariant Identifiers: chr17:g.54926134G>A (hg19) ; chr17:g.56848773G>A (hg38)
• PubMed: PMID:23542698 ; PMID:24747643

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56848773G>A , CM000679.2:g.56848773G>A	GRCh38
NC_000017.10:g.54926134G>A , CM000679.1:g.54926134G>A	GRCh37
NC_000017.9:g.52281133G>A	NCBI36
NG_033888.1:g.19675G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284061.8:c.966G>A (DGKE) MANE Select	ENSP00000284061.3:p.Trp322Ter
ENST00000648772.1:c.*313+3170C>T (TRIM25)	ENSP00000498158.1:n.*313+3170C>T
ENST00000284061.7:c.966G>A (DGKE)	ENSP00000284061.3:p.Trp322Ter
ENST00000572944.1:c.796G>A (DGKE)
NM_003647.2:c.966G>A (DGKE)	NP_003638.1:p.Trp322Ter
XM_011525394.1:c.1020G>A (DGKE)	XP_011523696.1:p.Trp340Ter
XM_011525395.1:c.1020G>A (DGKE)	XP_011523697.1:p.Trp340Ter
XM_011525396.1:c.1020G>A (DGKE)	XP_011523698.1:p.Trp340Ter
XM_011525397.1:c.1020G>A (DGKE)	XP_011523699.1:p.Trp340Ter
XM_011525398.1:c.510G>A (DGKE)	XP_011523700.1:p.Trp170Ter
XR_934581.1:n.1119G>A (DGKE)
XM_011525394.3:c.1020G>A (DGKE)	XP_011523696.1:p.Trp340Ter
XM_011525395.2:c.1020G>A (DGKE)	XP_011523697.1:p.Trp340Ter
XM_011525396.2:c.1020G>A (DGKE)	XP_011523698.1:p.Trp340Ter
XM_017025243.2:c.1338G>A (DGKE)	XP_016880732.1:p.Trp446Ter
XM_017025244.2:c.1020G>A (DGKE)	XP_016880733.1:p.Trp340Ter
XR_001752670.2:n.1524G>A (DGKE)
XR_001752671.1:n.1131G>A (DGKE)
XR_001752672.1:n.1132G>A (DGKE)
XR_002958079.1:n.1130G>A (DGKE)
NM_003647.3:c.966G>A (DGKE) MANE Select	NP_003638.1:p.Trp322Ter