Linked Data
ClinVar Variation Id:
1206180
ClinVar RCV Id:
RCV001573464
dbSNP Id:
rs1218404593
gnomAD v2:
1-97658753-T-C
gnomAD v4:
1-97193197-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97193197T>C , CM000663.2:g.97193197T>C | GRCh38 |
| NC_000001.10:g.97658753T>C , CM000663.1:g.97658753T>C | GRCh37 |
| NC_000001.9:g.97431341T>C | NCBI36 |
| NG_008807.2:g.732863A>G , LRG_722:g.732863A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.2494A>G (DPYD) MANE Select | ENSP00000359211.3:p.Thr832Ala | |
| ENST00000370192.7:c.2494A>G (DPYD) | ENSP00000359211.3:p.Thr832Ala | |
| NM_000110.3:c.2494A>G , LRG_722t1:c.2494A>G (DPYD) | NP_000101.2:p.Thr832Ala | |
| NR_046590.1:n.65-72217T>C (DPYD-AS1) | ||
| XM_005270562.3:c.2278A>G (DPYD) | XP_005270619.2:p.Thr760Ala | |
| XM_006710397.2:c.2494A>G (DPYD) | XP_006710460.1:p.Thr832Ala | |
| XM_006710397.3:c.2494A>G (DPYD) | XP_006710460.1:p.Thr832Ala | |
| XM_017000507.1:c.2383A>G (DPYD) | XP_016855996.1:p.Thr795Ala | |
| XM_017000508.2:c.1999A>G (DPYD) | XP_016855997.1:p.Thr667Ala | |
| XM_017000509.2:c.1999A>G (DPYD) | XP_016855998.1:p.Thr667Ala | |
| XM_017000510.1:c.1999A>G (DPYD) | XP_016855999.1:p.Thr667Ala | |
| NM_000110.4:c.2494A>G (DPYD) MANE Select | NP_000101.2:p.Thr832Ala |