Canonical Allele Identifier: CA399926017

Gene: DGKE TRIM25

Linked Data

• ClinVar Variation Id: 2062617
• ClinVar RCV Id: RCV002957870
• dbSNP Id: rs1293783964
• gnomAD v2: 17-54921419-G-A
• gnomAD v3: 17-56844058-G-A
• gnomAD v4: 17-56844058-G-A
• MyVariant Identifiers: chr17:g.54921419G>A (hg19) ; chr17:g.56844058G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56844058G>A , CM000679.2:g.56844058G>A	GRCh38
NC_000017.10:g.54921419G>A , CM000679.1:g.54921419G>A	GRCh37
NC_000017.9:g.52276418G>A	NCBI36
NG_033888.1:g.14960G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000284061.8:c.504G>A (DGKE) MANE Select	ENSP00000284061.3:p.Met168Ile
ENST00000648772.1:c.*314-268C>T (TRIM25)	ENSP00000498158.1:n.*314-268C>T
ENST00000284061.7:c.504G>A (DGKE)	ENSP00000284061.3:p.Met168Ile
ENST00000571084.1:n.40G>A (DGKE)
ENST00000572944.1:c.334G>A (DGKE)
ENST00000576869.5:n.652G>A (DGKE)
NM_003647.2:c.504G>A (DGKE)	NP_003638.1:p.Met168Ile
XM_011525394.1:c.558G>A (DGKE)	XP_011523696.1:p.Met186Ile
XM_011525395.1:c.558G>A (DGKE)	XP_011523697.1:p.Met186Ile
XM_011525396.1:c.558G>A (DGKE)	XP_011523698.1:p.Met186Ile
XM_011525397.1:c.558G>A (DGKE)	XP_011523699.1:p.Met186Ile
XM_011525398.1:c.48G>A (DGKE)	XP_011523700.1:p.Met16Ile
XR_934581.1:n.657G>A (DGKE)
XM_011525394.3:c.558G>A (DGKE)	XP_011523696.1:p.Met186Ile
XM_011525395.2:c.558G>A (DGKE)	XP_011523697.1:p.Met186Ile
XM_011525396.2:c.558G>A (DGKE)	XP_011523698.1:p.Met186Ile
XM_017025243.2:c.504G>A (DGKE)	XP_016880732.1:p.Met168Ile
XM_017025244.2:c.558G>A (DGKE)	XP_016880733.1:p.Met186Ile
XR_001752670.2:n.690G>A (DGKE)
XR_001752671.1:n.669G>A (DGKE)
XR_001752672.1:n.670G>A (DGKE)
XR_002958079.1:n.668G>A (DGKE)
NM_003647.3:c.504G>A (DGKE) MANE Select	NP_003638.1:p.Met168Ile