Linked Data
dbSNP Id:
rs201035051
ExAC:
1:97564188 T / G
gnomAD v2:
1-97564188-T-G
gnomAD v3:
1-97098632-T-G
gnomAD v4:
1-97098632-T-G
COSMIC:
COSM1503843
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97098632T>G , CM000663.2:g.97098632T>G | GRCh38 |
| NC_000001.10:g.97564188T>G , CM000663.1:g.97564188T>G | GRCh37 |
| NC_000001.9:g.97336776T>G | NCBI36 |
| NG_008807.2:g.827428A>C , LRG_722:g.827428A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.2623A>C (DPYD) MANE Select | ENSP00000359211.3:p.Lys875Gln | |
| ENST00000370192.7:c.2623A>C (DPYD) | ENSP00000359211.3:p.Lys875Gln | |
| NM_000110.3:c.2623A>C , LRG_722t1:c.2623A>C (DPYD) | NP_000101.2:p.Lys875Gln | |
| NR_046590.1:n.64+2646T>G (DPYD-AS1) | ||
| XM_005270562.3:c.2407A>C (DPYD) | XP_005270619.2:p.Lys803Gln | |
| XM_017000507.1:c.2512A>C (DPYD) | XP_016855996.1:p.Lys838Gln | |
| XM_017000508.2:c.2128A>C (DPYD) | XP_016855997.1:p.Lys710Gln | |
| XM_017000509.2:c.2128A>C (DPYD) | XP_016855998.1:p.Lys710Gln | |
| XM_017000510.1:c.2128A>C (DPYD) | XP_016855999.1:p.Lys710Gln | |
| NM_000110.4:c.2623A>C (DPYD) MANE Select | NP_000101.2:p.Lys875Gln |