Revel Score:
ENST00000258662 (MANE Select)
0.271
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01021765 (EAS)
Genomes Max Group AF
0.00857575 (EAS)
Exomes Max Group AF
0.01019036 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48037798G>A , CM000675.2:g.48037798G>A | GRCh38 |
| NC_000013.10:g.48611934G>A , CM000675.1:g.48611934G>A | GRCh37 |
| NC_000013.9:g.47509935G>A | NCBI36 |
| NG_047021.1:g.5232G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.52G>A (NUDT15) MANE Select | ENSP00000258662.1:p.Val18Ile | |
| ENST00000643246.1:c.-355C>T (SUCLA2) | ENSP00000496235.1:n.-355C>T | |
| ENST00000646804.1:c.-277C>T (SUCLA2) | ENSP00000493977.1:n.-277C>T | |
| ENST00000258662.2:c.52G>A (NUDT15) | ENSP00000258662.1:p.Val18Ile | |
| NM_001304745.1:c.52G>A (NUDT15) | NP_001291674.1:p.Val18Ile | |
| NM_018283.2:c.52G>A (NUDT15) | NP_060753.1:p.Val18Ile | |
| NM_018283.3:c.52G>A (NUDT15) | NP_060753.1:p.Val18Ile | |
| NR_136687.1:n.232G>A (NUDT15) | ||
| NR_136688.1:n.232G>A (NUDT15) | ||
| NM_018283.4:c.52G>A (NUDT15) MANE Select | NP_060753.1:p.Val18Ile | |
| NM_001304745.2:c.52G>A (NUDT15) | NP_001291674.1:p.Val18Ile | |
| NR_136687.2:n.73G>A (NUDT15) | ||
| NR_136688.2:n.73G>A (NUDT15) |