Canonical Allele Identifier: CA399927982

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848811T>C , CM000679.2:g.56848811T>C GRCh38
NC_000017.10:g.54926172T>C , CM000679.1:g.54926172T>C GRCh37
NC_000017.9:g.52281171T>C NCBI36
NG_033888.1:g.19713T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.1004T>C (DGKE) MANE Select ENSP00000284061.3:p.Val335Ala
ENST00000648772.1:c.*313+3132A>G (TRIM25) ENSP00000498158.1:n.*313+3132A>G
ENST00000284061.7:c.1004T>C (DGKE) ENSP00000284061.3:p.Val335Ala
ENST00000572944.1:c.834T>C (DGKE)
NM_003647.2:c.1004T>C (DGKE) NP_003638.1:p.Val335Ala
XM_011525394.1:c.1058T>C (DGKE) XP_011523696.1:p.Val353Ala
XM_011525395.1:c.1058T>C (DGKE) XP_011523697.1:p.Val353Ala
XM_011525396.1:c.1058T>C (DGKE) XP_011523698.1:p.Val353Ala
XM_011525397.1:c.1058T>C (DGKE) XP_011523699.1:p.Val353Ala
XM_011525398.1:c.548T>C (DGKE) XP_011523700.1:p.Val183Ala
XR_934581.1:n.1157T>C (DGKE)
XM_011525394.3:c.1058T>C (DGKE) XP_011523696.1:p.Val353Ala
XM_011525395.2:c.1058T>C (DGKE) XP_011523697.1:p.Val353Ala
XM_011525396.2:c.1058T>C (DGKE) XP_011523698.1:p.Val353Ala
XM_017025243.2:c.1376T>C (DGKE) XP_016880732.1:p.Val459Ala
XM_017025244.2:c.1058T>C (DGKE) XP_016880733.1:p.Val353Ala
XR_001752670.2:n.1562T>C (DGKE)
XR_001752671.1:n.1169T>C (DGKE)
XR_001752672.1:n.1170T>C (DGKE)
XR_002958079.1:n.1168T>C (DGKE)
NM_003647.3:c.1004T>C (DGKE) MANE Select NP_003638.1:p.Val335Ala