Canonical Allele Identifier: CA291908532

Gene: DGKE TRIM25

Linked Data

• dbSNP Id: rs1029933578
• gnomAD v4: 17-56848798-C-G
• MyVariant Identifiers: chr17:g.54926159C>G (hg19) ; chr17:g.56848798C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56848798C>G , CM000679.2:g.56848798C>G	GRCh38
NC_000017.10:g.54926159C>G , CM000679.1:g.54926159C>G	GRCh37
NC_000017.9:g.52281158C>G	NCBI36
NG_033888.1:g.19700C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284061.8:c.991C>G (DGKE) MANE Select	ENSP00000284061.3:p.Pro331Ala
ENST00000648772.1:c.*313+3145G>C (TRIM25)	ENSP00000498158.1:n.*313+3145G>C
ENST00000284061.7:c.991C>G (DGKE)	ENSP00000284061.3:p.Pro331Ala
ENST00000572944.1:c.821C>G (DGKE)
NM_003647.2:c.991C>G (DGKE)	NP_003638.1:p.Pro331Ala
XM_011525394.1:c.1045C>G (DGKE)	XP_011523696.1:p.Pro349Ala
XM_011525395.1:c.1045C>G (DGKE)	XP_011523697.1:p.Pro349Ala
XM_011525396.1:c.1045C>G (DGKE)	XP_011523698.1:p.Pro349Ala
XM_011525397.1:c.1045C>G (DGKE)	XP_011523699.1:p.Pro349Ala
XM_011525398.1:c.535C>G (DGKE)	XP_011523700.1:p.Pro179Ala
XR_934581.1:n.1144C>G (DGKE)
XM_011525394.3:c.1045C>G (DGKE)	XP_011523696.1:p.Pro349Ala
XM_011525395.2:c.1045C>G (DGKE)	XP_011523697.1:p.Pro349Ala
XM_011525396.2:c.1045C>G (DGKE)	XP_011523698.1:p.Pro349Ala
XM_017025243.2:c.1363C>G (DGKE)	XP_016880732.1:p.Pro455Ala
XM_017025244.2:c.1045C>G (DGKE)	XP_016880733.1:p.Pro349Ala
XR_001752670.2:n.1549C>G (DGKE)
XR_001752671.1:n.1156C>G (DGKE)
XR_001752672.1:n.1157C>G (DGKE)
XR_002958079.1:n.1155C>G (DGKE)
NM_003647.3:c.991C>G (DGKE) MANE Select	NP_003638.1:p.Pro331Ala