Canonical Allele Identifier: CA399927905

Gene: DGKE TRIM25

Linked Data

• gnomAD v4: 17-56848775-G-A
• COSMIC: COSM3194630
• MyVariant Identifiers: chr17:g.54926136G>A (hg19) ; chr17:g.56848775G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56848775G>A , CM000679.2:g.56848775G>A	GRCh38
NC_000017.10:g.54926136G>A , CM000679.1:g.54926136G>A	GRCh37
NC_000017.9:g.52281135G>A	NCBI36
NG_033888.1:g.19677G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284061.8:c.968G>A (DGKE) MANE Select	ENSP00000284061.3:p.Gly323Asp
ENST00000648772.1:c.*313+3168C>T (TRIM25)	ENSP00000498158.1:n.*313+3168C>T
ENST00000284061.7:c.968G>A (DGKE)	ENSP00000284061.3:p.Gly323Asp
ENST00000572944.1:c.798G>A (DGKE)
NM_003647.2:c.968G>A (DGKE)	NP_003638.1:p.Gly323Asp
XM_011525394.1:c.1022G>A (DGKE)	XP_011523696.1:p.Gly341Asp
XM_011525395.1:c.1022G>A (DGKE)	XP_011523697.1:p.Gly341Asp
XM_011525396.1:c.1022G>A (DGKE)	XP_011523698.1:p.Gly341Asp
XM_011525397.1:c.1022G>A (DGKE)	XP_011523699.1:p.Gly341Asp
XM_011525398.1:c.512G>A (DGKE)	XP_011523700.1:p.Gly171Asp
XR_934581.1:n.1121G>A (DGKE)
XM_011525394.3:c.1022G>A (DGKE)	XP_011523696.1:p.Gly341Asp
XM_011525395.2:c.1022G>A (DGKE)	XP_011523697.1:p.Gly341Asp
XM_011525396.2:c.1022G>A (DGKE)	XP_011523698.1:p.Gly341Asp
XM_017025243.2:c.1340G>A (DGKE)	XP_016880732.1:p.Gly447Asp
XM_017025244.2:c.1022G>A (DGKE)	XP_016880733.1:p.Gly341Asp
XR_001752670.2:n.1526G>A (DGKE)
XR_001752671.1:n.1133G>A (DGKE)
XR_001752672.1:n.1134G>A (DGKE)
XR_002958079.1:n.1132G>A (DGKE)
NM_003647.3:c.968G>A (DGKE) MANE Select	NP_003638.1:p.Gly323Asp