Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48037688G>A , CM000675.2:g.48037688G>A | GRCh38 |
| NC_000013.10:g.48611824G>A , CM000675.1:g.48611824G>A | GRCh37 |
| NC_000013.9:g.47509825G>A | NCBI36 |
| NG_047021.1:g.5122G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643246.1:c.-245C>T (SUCLA2) | ENSP00000496235.1:n.-245C>T | |
| ENST00000646804.1:c.-167C>T (SUCLA2) | ENSP00000493977.1:n.-167C>T | |
| ENST00000258662.2:c.-59G>A (NUDT15) | ENSP00000258662.1:n.-59G>A | |
| NM_001304745.1:c.-59G>A (NUDT15) | NP_001291674.1:n.-59G>A | |
| NM_018283.2:c.-59G>A (NUDT15) | NP_060753.1:n.-59G>A | |
| NM_018283.3:c.-59G>A (NUDT15) | NP_060753.1:n.-59G>A | |
| NR_136687.1:n.122G>A (NUDT15) | ||
| NR_136688.1:n.122G>A (NUDT15) |