Linked Data
dbSNP Id:
rs757336402
gnomAD v2:
17-54926214-G-A
gnomAD v3:
17-56848853-G-A
gnomAD v4:
17-56848853-G-A
MyVariant Identifiers:
chr17:g.54926214G>A (hg19)
chr17:g.54926214_54926218delinsAGTAA (hg19)
chr17:g.56848853G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56848853G>A , CM000679.2:g.56848853G>A | GRCh38 |
| NC_000017.10:g.54926214G>A , CM000679.1:g.54926214G>A | GRCh37 |
| NC_000017.9:g.52281213G>A | NCBI36 |
| NG_033888.1:g.19755G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284061.8:c.1046G>A (DGKE) MANE Select | ENSP00000284061.3:p.Arg349Gln | |
| ENST00000648772.1:c.*313+3090C>T (TRIM25) | ENSP00000498158.1:n.*313+3090C>T | |
| ENST00000284061.7:c.1046G>A (DGKE) | ENSP00000284061.3:p.Arg349Gln | |
| ENST00000572944.1:c.876G>A (DGKE) | ||
| NM_003647.2:c.1046G>A (DGKE) | NP_003638.1:p.Arg349Gln | |
| XM_011525394.1:c.1100G>A (DGKE) | XP_011523696.1:p.Arg367Gln | |
| XM_011525395.1:c.1100G>A (DGKE) | XP_011523697.1:p.Arg367Gln | |
| XM_011525396.1:c.1100G>A (DGKE) | XP_011523698.1:p.Arg367Gln | |
| XM_011525397.1:c.1100G>A (DGKE) | XP_011523699.1:p.Arg367Gln | |
| XM_011525398.1:c.590G>A (DGKE) | XP_011523700.1:p.Arg197Gln | |
| XR_934581.1:n.1199G>A (DGKE) | ||
| XM_011525394.3:c.1100G>A (DGKE) | XP_011523696.1:p.Arg367Gln | |
| XM_011525395.2:c.1100G>A (DGKE) | XP_011523697.1:p.Arg367Gln | |
| XM_011525396.2:c.1100G>A (DGKE) | XP_011523698.1:p.Arg367Gln | |
| XM_017025243.2:c.1418G>A (DGKE) | XP_016880732.1:p.Arg473Gln | |
| XM_017025244.2:c.1100G>A (DGKE) | XP_016880733.1:p.Arg367Gln | |
| XR_001752670.2:n.1604G>A (DGKE) | ||
| XR_001752671.1:n.1211G>A (DGKE) | ||
| XR_001752672.1:n.1212G>A (DGKE) | ||
| XR_002958079.1:n.1210G>A (DGKE) | ||
| NM_003647.3:c.1046G>A (DGKE) MANE Select | NP_003638.1:p.Arg349Gln |