Linked Data
dbSNP Id:
rs754908546
gnomAD v4:
13-48037794-C-A
MyVariant Identifiers:
chr13:g.48611930C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48037794C>A , CM000675.2:g.48037794C>A | GRCh38 |
| NC_000013.10:g.48611930C>A , CM000675.1:g.48611930C>A | GRCh37 |
| NC_000013.9:g.47509931C>A | NCBI36 |
| NG_047021.1:g.5228C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.48C>A (NUDT15) MANE Select | ENSP00000258662.1:p.Val16= | |
| ENST00000643246.1:c.-351G>T (SUCLA2) | ENSP00000496235.1:n.-351G>T | |
| ENST00000646804.1:c.-273G>T (SUCLA2) | ENSP00000493977.1:n.-273G>T | |
| ENST00000258662.2:c.48C>A (NUDT15) | ENSP00000258662.1:p.Val16= | |
| NM_001304745.1:c.48C>A (NUDT15) | NP_001291674.1:p.Val16= | |
| NM_018283.2:c.48C>A (NUDT15) | NP_060753.1:p.Val16= | |
| NM_018283.3:c.48C>A (NUDT15) | NP_060753.1:p.Val16= | |
| NR_136687.1:n.228C>A (NUDT15) | ||
| NR_136688.1:n.228C>A (NUDT15) | ||
| NM_018283.4:c.48C>A (NUDT15) MANE Select | NP_060753.1:p.Val16= | |
| NM_001304745.2:c.48C>A (NUDT15) | NP_001291674.1:p.Val16= | |
| NR_136687.2:n.69C>A (NUDT15) | ||
| NR_136688.2:n.69C>A (NUDT15) |