Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48037698A>G , CM000675.2:g.48037698A>G | GRCh38 |
| NC_000013.10:g.48611834A>G , CM000675.1:g.48611834A>G | GRCh37 |
| NC_000013.9:g.47509835A>G | NCBI36 |
| NG_047021.1:g.5132A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643246.1:c.-255T>C (SUCLA2) | ENSP00000496235.1:n.-255T>C | |
| ENST00000646804.1:c.-177T>C (SUCLA2) | ENSP00000493977.1:n.-177T>C | |
| ENST00000258662.2:c.-49A>G (NUDT15) | ENSP00000258662.1:n.-49A>G | |
| NM_001304745.1:c.-49A>G (NUDT15) | NP_001291674.1:n.-49A>G | |
| NM_018283.2:c.-49A>G (NUDT15) | NP_060753.1:n.-49A>G | |
| NM_018283.3:c.-49A>G (NUDT15) | NP_060753.1:n.-49A>G | |
| NR_136687.1:n.132A>G (NUDT15) | ||
| NR_136688.1:n.132A>G (NUDT15) |