Canonical Allele Identifier: CA399927948

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848795A>C , CM000679.2:g.56848795A>C GRCh38
NC_000017.10:g.54926156A>C , CM000679.1:g.54926156A>C GRCh37
NC_000017.9:g.52281155A>C NCBI36
NG_033888.1:g.19697A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000284061.8:c.988A>C (DGKE) MANE Select ENSP00000284061.3:p.Ile330Leu
ENST00000648772.1:c.*313+3148T>G (TRIM25) ENSP00000498158.1:n.*313+3148T>G
ENST00000284061.7:c.988A>C (DGKE) ENSP00000284061.3:p.Ile330Leu
ENST00000572944.1:c.818A>C (DGKE)
NM_003647.2:c.988A>C (DGKE) NP_003638.1:p.Ile330Leu
XM_011525394.1:c.1042A>C (DGKE) XP_011523696.1:p.Ile348Leu
XM_011525395.1:c.1042A>C (DGKE) XP_011523697.1:p.Ile348Leu
XM_011525396.1:c.1042A>C (DGKE) XP_011523698.1:p.Ile348Leu
XM_011525397.1:c.1042A>C (DGKE) XP_011523699.1:p.Ile348Leu
XM_011525398.1:c.532A>C (DGKE) XP_011523700.1:p.Ile178Leu
XR_934581.1:n.1141A>C (DGKE)
XM_011525394.3:c.1042A>C (DGKE) XP_011523696.1:p.Ile348Leu
XM_011525395.2:c.1042A>C (DGKE) XP_011523697.1:p.Ile348Leu
XM_011525396.2:c.1042A>C (DGKE) XP_011523698.1:p.Ile348Leu
XM_017025243.2:c.1360A>C (DGKE) XP_016880732.1:p.Ile454Leu
XM_017025244.2:c.1042A>C (DGKE) XP_016880733.1:p.Ile348Leu
XR_001752670.2:n.1546A>C (DGKE)
XR_001752671.1:n.1153A>C (DGKE)
XR_001752672.1:n.1154A>C (DGKE)
XR_002958079.1:n.1152A>C (DGKE)
NM_003647.3:c.988A>C (DGKE) MANE Select NP_003638.1:p.Ile330Leu