Canonical Allele Identifier: CA399928027

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848834G>C , CM000679.2:g.56848834G>C GRCh38
NC_000017.10:g.54926195G>C , CM000679.1:g.54926195G>C GRCh37
NC_000017.9:g.52281194G>C NCBI36
NG_033888.1:g.19736G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.1027G>C (DGKE) MANE Select ENSP00000284061.3:p.Asp343His
ENST00000648772.1:c.*313+3109C>G (TRIM25) ENSP00000498158.1:n.*313+3109C>G
ENST00000284061.7:c.1027G>C (DGKE) ENSP00000284061.3:p.Asp343His
ENST00000572944.1:c.857G>C (DGKE)
NM_003647.2:c.1027G>C (DGKE) NP_003638.1:p.Asp343His
XM_011525394.1:c.1081G>C (DGKE) XP_011523696.1:p.Asp361His
XM_011525395.1:c.1081G>C (DGKE) XP_011523697.1:p.Asp361His
XM_011525396.1:c.1081G>C (DGKE) XP_011523698.1:p.Asp361His
XM_011525397.1:c.1081G>C (DGKE) XP_011523699.1:p.Asp361His
XM_011525398.1:c.571G>C (DGKE) XP_011523700.1:p.Asp191His
XR_934581.1:n.1180G>C (DGKE)
XM_011525394.3:c.1081G>C (DGKE) XP_011523696.1:p.Asp361His
XM_011525395.2:c.1081G>C (DGKE) XP_011523697.1:p.Asp361His
XM_011525396.2:c.1081G>C (DGKE) XP_011523698.1:p.Asp361His
XM_017025243.2:c.1399G>C (DGKE) XP_016880732.1:p.Asp467His
XM_017025244.2:c.1081G>C (DGKE) XP_016880733.1:p.Asp361His
XR_001752670.2:n.1585G>C (DGKE)
XR_001752671.1:n.1192G>C (DGKE)
XR_001752672.1:n.1193G>C (DGKE)
XR_002958079.1:n.1191G>C (DGKE)
NM_003647.3:c.1027G>C (DGKE) MANE Select NP_003638.1:p.Asp343His