Linked Data
ClinVar Variation Id:
371437
ClinVar RCV Id:
RCV000412100
dbSNP Id:
rs1057517271
gnomAD v4:
1-97193137-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97193137G>A , CM000663.2:g.97193137G>A | GRCh38 |
| NC_000001.10:g.97658693G>A , CM000663.1:g.97658693G>A | GRCh37 |
| NC_000001.9:g.97431281G>A | NCBI36 |
| NG_008807.2:g.732923C>T , LRG_722:g.732923C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370192.8:c.2554C>T (DPYD) MANE Select | ENSP00000359211.3:p.Gln852Ter | |
| ENST00000370192.7:c.2554C>T (DPYD) | ENSP00000359211.3:p.Gln852Ter | |
| NM_000110.3:c.2554C>T , LRG_722t1:c.2554C>T (DPYD) | NP_000101.2:p.Gln852Ter | |
| NR_046590.1:n.65-72277G>A (DPYD-AS1) | ||
| XM_005270562.3:c.2338C>T (DPYD) | XP_005270619.2:p.Gln780Ter | |
| XM_006710397.2:c.2554C>T (DPYD) | XP_006710460.1:p.Gln852Ter | |
| XM_006710397.3:c.2554C>T (DPYD) | XP_006710460.1:p.Gln852Ter | |
| XM_017000507.1:c.2443C>T (DPYD) | XP_016855996.1:p.Gln815Ter | |
| XM_017000508.2:c.2059C>T (DPYD) | XP_016855997.1:p.Gln687Ter | |
| XM_017000509.2:c.2059C>T (DPYD) | XP_016855998.1:p.Gln687Ter | |
| XM_017000510.1:c.2059C>T (DPYD) | XP_016855999.1:p.Gln687Ter | |
| NM_000110.4:c.2554C>T (DPYD) MANE Select | NP_000101.2:p.Gln852Ter |