Linked Data
ClinVar Variation Id:
764540
ClinVar RCV Id:
RCV000942892
dbSNP Id:
rs1570451084
gnomAD v4:
1-97098640-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97098640G>A , CM000663.2:g.97098640G>A | GRCh38 |
| NC_000001.10:g.97564196G>A , CM000663.1:g.97564196G>A | GRCh37 |
| NC_000001.9:g.97336784G>A | NCBI36 |
| NG_008807.2:g.827420C>T , LRG_722:g.827420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.2623-8C>T (DPYD) MANE Select | ENSP00000359211.3:n.2623-8C>T | |
| ENST00000370192.7:c.2623-8C>T (DPYD) | ENSP00000359211.3:n.2623-8C>T | |
| NM_000110.3:c.2623-8C>T , LRG_722t1:c.2623-8C>T (DPYD) | NP_000101.2:n.2623-8C>T | |
| NR_046590.1:n.64+2654G>A (DPYD-AS1) | ||
| XM_005270562.3:c.2407-8C>T (DPYD) | XP_005270619.2:n.2407-8C>T | |
| XM_017000507.1:c.2512-8C>T (DPYD) | XP_016855996.1:n.2512-8C>T | |
| XM_017000508.2:c.2128-8C>T (DPYD) | XP_016855997.1:n.2128-8C>T | |
| XM_017000509.2:c.2128-8C>T (DPYD) | XP_016855998.1:n.2128-8C>T | |
| XM_017000510.1:c.2128-8C>T (DPYD) | XP_016855999.1:n.2128-8C>T | |
| NM_000110.4:c.2623-8C>T (DPYD) MANE Select | NP_000101.2:n.2623-8C>T |