Revel Score:
ENST00000370192 (MANE Select)
0.708
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00060417 (SAS)
Exomes Max Group AF
0.00063783 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97098616C>A , CM000663.2:g.97098616C>A | GRCh38 |
| NC_000001.10:g.97564172C>A , CM000663.1:g.97564172C>A | GRCh37 |
| NC_000001.9:g.97336760C>A | NCBI36 |
| NG_008807.2:g.827444G>T , LRG_722:g.827444G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.2639G>T (DPYD) MANE Select | ENSP00000359211.3:p.Gly880Val | |
| ENST00000370192.7:c.2639G>T (DPYD) | ENSP00000359211.3:p.Gly880Val | |
| NM_000110.3:c.2639G>T , LRG_722t1:c.2639G>T (DPYD) | NP_000101.2:p.Gly880Val | |
| NR_046590.1:n.64+2630C>A (DPYD-AS1) | ||
| XM_005270562.3:c.2423G>T (DPYD) | XP_005270619.2:p.Gly808Val | |
| XM_017000507.1:c.2528G>T (DPYD) | XP_016855996.1:p.Gly843Val | |
| XM_017000508.2:c.2144G>T (DPYD) | XP_016855997.1:p.Gly715Val | |
| XM_017000509.2:c.2144G>T (DPYD) | XP_016855998.1:p.Gly715Val | |
| XM_017000510.1:c.2144G>T (DPYD) | XP_016855999.1:p.Gly715Val | |
| NM_000110.4:c.2639G>T (DPYD) MANE Select | NP_000101.2:p.Gly880Val |