Linked Data
ClinVar Variation Id:
774156
ClinVar RCV Id:
RCV000954067
dbSNP Id:
rs369672458
ExAC:
1:97770808 C / T
gnomAD v2:
1-97770808-C-T
gnomAD v3:
1-97305252-C-T
gnomAD v4:
1-97305252-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97305252C>T , CM000663.2:g.97305252C>T | GRCh38 |
| NC_000001.10:g.97770808C>T , CM000663.1:g.97770808C>T | GRCh37 |
| NC_000001.9:g.97543396C>T | NCBI36 |
| NG_008807.2:g.620808G>A , LRG_722:g.620808G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.2299+7G>A (DPYD) MANE Select | ENSP00000359211.3:n.2299+7G>A | |
| ENST00000370192.7:c.2299+7G>A (DPYD) | ENSP00000359211.3:n.2299+7G>A | |
| NM_000110.3:c.2299+7G>A , LRG_722t1:c.2299+7G>A (DPYD) | NP_000101.2:n.2299+7G>A | |
| NR_046590.1:n.129-937C>T (DPYD-AS1) | ||
| XM_005270562.3:c.2083+7G>A (DPYD) | XP_005270619.2:n.2083+7G>A | |
| XM_006710397.2:c.2299+7G>A (DPYD) | XP_006710460.1:n.2299+7G>A | |
| XM_006710397.3:c.2299+7G>A (DPYD) | XP_006710460.1:n.2299+7G>A | |
| XM_017000507.1:c.2188+7G>A (DPYD) | XP_016855996.1:n.2188+7G>A | |
| XM_017000508.2:c.1804+7G>A (DPYD) | XP_016855997.1:n.1804+7G>A | |
| XM_017000509.2:c.1804+7G>A (DPYD) | XP_016855998.1:n.1804+7G>A | |
| XM_017000510.1:c.1804+7G>A (DPYD) | XP_016855999.1:n.1804+7G>A | |
| NM_000110.4:c.2299+7G>A (DPYD) MANE Select | NP_000101.2:n.2299+7G>A |