Canonical Allele Identifier: CA8663660

Gene: DGKE TRIM25

Linked Data

• dbSNP Id: rs149433337
• ExAC: 17:54926166 C / T
• gnomAD v2: 17-54926166-C-T
• gnomAD v3: 17-56848805-C-T
• gnomAD v4: 17-56848805-C-T
• COSMIC: COSM3194631
• MyVariant Identifiers: chr17:g.54926166C>T (hg19) ; chr17:g.56848805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56848805C>T , CM000679.2:g.56848805C>T	GRCh38
NC_000017.10:g.54926166C>T , CM000679.1:g.54926166C>T	GRCh37
NC_000017.9:g.52281165C>T	NCBI36
NG_033888.1:g.19707C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284061.8:c.998C>T (DGKE) MANE Select	ENSP00000284061.3:p.Ala333Val
ENST00000648772.1:c.*313+3138G>A (TRIM25)	ENSP00000498158.1:n.*313+3138G>A
ENST00000284061.7:c.998C>T (DGKE)	ENSP00000284061.3:p.Ala333Val
ENST00000572944.1:c.828C>T (DGKE)
NM_003647.2:c.998C>T (DGKE)	NP_003638.1:p.Ala333Val
XM_011525394.1:c.1052C>T (DGKE)	XP_011523696.1:p.Ala351Val
XM_011525395.1:c.1052C>T (DGKE)	XP_011523697.1:p.Ala351Val
XM_011525396.1:c.1052C>T (DGKE)	XP_011523698.1:p.Ala351Val
XM_011525397.1:c.1052C>T (DGKE)	XP_011523699.1:p.Ala351Val
XM_011525398.1:c.542C>T (DGKE)	XP_011523700.1:p.Ala181Val
XR_934581.1:n.1151C>T (DGKE)
XM_011525394.3:c.1052C>T (DGKE)	XP_011523696.1:p.Ala351Val
XM_011525395.2:c.1052C>T (DGKE)	XP_011523697.1:p.Ala351Val
XM_011525396.2:c.1052C>T (DGKE)	XP_011523698.1:p.Ala351Val
XM_017025243.2:c.1370C>T (DGKE)	XP_016880732.1:p.Ala457Val
XM_017025244.2:c.1052C>T (DGKE)	XP_016880733.1:p.Ala351Val
XR_001752670.2:n.1556C>T (DGKE)
XR_001752671.1:n.1163C>T (DGKE)
XR_001752672.1:n.1164C>T (DGKE)
XR_002958079.1:n.1162C>T (DGKE)
NM_003647.3:c.998C>T (DGKE) MANE Select	NP_003638.1:p.Ala333Val