Canonical Allele Identifier: CA399927861

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848754T>A , CM000679.2:g.56848754T>A GRCh38
NC_000017.10:g.54926115T>A , CM000679.1:g.54926115T>A GRCh37
NC_000017.9:g.52281114T>A NCBI36
NG_033888.1:g.19656T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000284061.8:c.947T>A (DGKE) MANE Select ENSP00000284061.3:p.Leu316Gln
ENST00000648772.1:c.*313+3189A>T (TRIM25) ENSP00000498158.1:n.*313+3189A>T
ENST00000284061.7:c.947T>A (DGKE) ENSP00000284061.3:p.Leu316Gln
ENST00000572944.1:c.777T>A (DGKE)
NM_003647.2:c.947T>A (DGKE) NP_003638.1:p.Leu316Gln
XM_011525394.1:c.1001T>A (DGKE) XP_011523696.1:p.Leu334Gln
XM_011525395.1:c.1001T>A (DGKE) XP_011523697.1:p.Leu334Gln
XM_011525396.1:c.1001T>A (DGKE) XP_011523698.1:p.Leu334Gln
XM_011525397.1:c.1001T>A (DGKE) XP_011523699.1:p.Leu334Gln
XM_011525398.1:c.491T>A (DGKE) XP_011523700.1:p.Leu164Gln
XR_934581.1:n.1100T>A (DGKE)
XM_011525394.3:c.1001T>A (DGKE) XP_011523696.1:p.Leu334Gln
XM_011525395.2:c.1001T>A (DGKE) XP_011523697.1:p.Leu334Gln
XM_011525396.2:c.1001T>A (DGKE) XP_011523698.1:p.Leu334Gln
XM_017025243.2:c.1319T>A (DGKE) XP_016880732.1:p.Leu440Gln
XM_017025244.2:c.1001T>A (DGKE) XP_016880733.1:p.Leu334Gln
XR_001752670.2:n.1505T>A (DGKE)
XR_001752671.1:n.1112T>A (DGKE)
XR_001752672.1:n.1113T>A (DGKE)
XR_002958079.1:n.1111T>A (DGKE)
NM_003647.3:c.947T>A (DGKE) MANE Select NP_003638.1:p.Leu316Gln