Canonical Allele Identifier: CA291908466

Gene: DGKE TRIM25

Linked Data

• dbSNP Id: rs1038384139
• gnomAD v2: 17-54926084-G-C
• gnomAD v3: 17-56848723-G-C
• gnomAD v4: 17-56848723-G-C
• MyVariant Identifiers: chr17:g.54926084G>C (hg19) ; chr17:g.56848723G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56848723G>C , CM000679.2:g.56848723G>C	GRCh38
NC_000017.10:g.54926084G>C , CM000679.1:g.54926084G>C	GRCh37
NC_000017.9:g.52281083G>C	NCBI36
NG_033888.1:g.19625G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000284061.8:c.916G>C (DGKE) MANE Select	ENSP00000284061.3:p.Ala306Pro
ENST00000648772.1:c.*313+3220C>G (TRIM25)	ENSP00000498158.1:n.*313+3220C>G
ENST00000284061.7:c.916G>C (DGKE)	ENSP00000284061.3:p.Ala306Pro
ENST00000572944.1:c.746G>C (DGKE)
NM_003647.2:c.916G>C (DGKE)	NP_003638.1:p.Ala306Pro
XM_011525394.1:c.970G>C (DGKE)	XP_011523696.1:p.Ala324Pro
XM_011525395.1:c.970G>C (DGKE)	XP_011523697.1:p.Ala324Pro
XM_011525396.1:c.970G>C (DGKE)	XP_011523698.1:p.Ala324Pro
XM_011525397.1:c.970G>C (DGKE)	XP_011523699.1:p.Ala324Pro
XM_011525398.1:c.460G>C (DGKE)	XP_011523700.1:p.Ala154Pro
XR_934581.1:n.1069G>C (DGKE)
XM_011525394.3:c.970G>C (DGKE)	XP_011523696.1:p.Ala324Pro
XM_011525395.2:c.970G>C (DGKE)	XP_011523697.1:p.Ala324Pro
XM_011525396.2:c.970G>C (DGKE)	XP_011523698.1:p.Ala324Pro
XM_017025243.2:c.1288G>C (DGKE)	XP_016880732.1:p.Ala430Pro
XM_017025244.2:c.970G>C (DGKE)	XP_016880733.1:p.Ala324Pro
XR_001752670.2:n.1474G>C (DGKE)
XR_001752671.1:n.1081G>C (DGKE)
XR_001752672.1:n.1082G>C (DGKE)
XR_002958079.1:n.1080G>C (DGKE)
NM_003647.3:c.916G>C (DGKE) MANE Select	NP_003638.1:p.Ala306Pro