Canonical Allele Identifier: CA399928059

Gene: DGKE TRIM25

Linked Data

• dbSNP Id: rs1165081063
• gnomAD v2: 17-54926208-T-C
• gnomAD v4: 17-56848847-T-C
• MyVariant Identifiers: chr17:g.54926208T>C (hg19) ; chr17:g.56848847T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56848847T>C , CM000679.2:g.56848847T>C	GRCh38
NC_000017.10:g.54926208T>C , CM000679.1:g.54926208T>C	GRCh37
NC_000017.9:g.52281207T>C	NCBI36
NG_033888.1:g.19749T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284061.8:c.1040T>C (DGKE) MANE Select	ENSP00000284061.3:p.Leu347Pro
ENST00000648772.1:c.*313+3096A>G (TRIM25)	ENSP00000498158.1:n.*313+3096A>G
ENST00000284061.7:c.1040T>C (DGKE)	ENSP00000284061.3:p.Leu347Pro
ENST00000572944.1:c.870T>C (DGKE)
NM_003647.2:c.1040T>C (DGKE)	NP_003638.1:p.Leu347Pro
XM_011525394.1:c.1094T>C (DGKE)	XP_011523696.1:p.Leu365Pro
XM_011525395.1:c.1094T>C (DGKE)	XP_011523697.1:p.Leu365Pro
XM_011525396.1:c.1094T>C (DGKE)	XP_011523698.1:p.Leu365Pro
XM_011525397.1:c.1094T>C (DGKE)	XP_011523699.1:p.Leu365Pro
XM_011525398.1:c.584T>C (DGKE)	XP_011523700.1:p.Leu195Pro
XR_934581.1:n.1193T>C (DGKE)
XM_011525394.3:c.1094T>C (DGKE)	XP_011523696.1:p.Leu365Pro
XM_011525395.2:c.1094T>C (DGKE)	XP_011523697.1:p.Leu365Pro
XM_011525396.2:c.1094T>C (DGKE)	XP_011523698.1:p.Leu365Pro
XM_017025243.2:c.1412T>C (DGKE)	XP_016880732.1:p.Leu471Pro
XM_017025244.2:c.1094T>C (DGKE)	XP_016880733.1:p.Leu365Pro
XR_001752670.2:n.1598T>C (DGKE)
XR_001752671.1:n.1205T>C (DGKE)
XR_001752672.1:n.1206T>C (DGKE)
XR_002958079.1:n.1204T>C (DGKE)
NM_003647.3:c.1040T>C (DGKE) MANE Select	NP_003638.1:p.Leu347Pro