Linked Data
ClinVar Variation Id:
2380887
ClinVar RCV Id:
RCV004223248
dbSNP Id:
rs760184519
ExAC:
3:49053283 A / C
gnomAD v2:
3-49053283-A-C
gnomAD v3:
3-49015850-A-C
gnomAD v4:
3-49015850-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49015850A>C , CM000665.2:g.49015850A>C | GRCh38 |
| NC_000003.11:g.49053283A>C , CM000665.1:g.49053283A>C | GRCh37 |
| NC_000003.10:g.49028287A>C | NCBI36 |
| NG_016282.1:g.376A>C | |
| NG_029915.1:g.13647A>C | |
| NG_033126.1:g.10222T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341949.9:c.1466T>G (DALRD3) MANE Select | ENSP00000344989.4:p.Leu489Arg | |
| ENST00000608424.6:c.*562A>C (WDR6) MANE Select | ENSP00000477389.1:n.*562A>C | |
| ENST00000313778.9:c.965T>G (DALRD3) | ENSP00000323265.5:p.Leu322Arg | |
| ENST00000341949.8:c.1466T>G (DALRD3) | ENSP00000344989.4:p.Leu489Arg | |
| ENST00000395474.7:c.*562A>C (WDR6) | ENSP00000378857.3:n.*562A>C | |
| ENST00000438585.5:c.403T>G (DALRD3) | ||
| ENST00000440857.5:c.1065T>G (DALRD3) | ENSP00000403770.1:p.Ala355= | |
| ENST00000441576.6:c.1440T>G (DALRD3) | ENSP00000410623.2:p.Ala480= | |
| ENST00000460505.5:n.1620T>G (DALRD3) | ||
| ENST00000467457.5:n.1266T>G (DALRD3) | ||
| ENST00000472331.5:n.813T>G (DALRD3) | ||
| ENST00000481001.5:n.434T>G (DALRD3) | ||
| ENST00000484831.5:n.1550T>G (DALRD3) | ||
| ENST00000498498.5:n.839T>G (DALRD3) | ||
| ENST00000498794.1:n.2628T>G (DALRD3) | ||
| ENST00000608424.5:c.*562A>C (WDR6) | ENSP00000477389.1:n.*562A>C | |
| ENST00000610967.4:c.*562A>C (WDR6) | ENSP00000484799.1:n.*562A>C | |
| ENST00000615452.1:c.*562A>C (WDR6) | ENSP00000482289.1:n.*562A>C | |
| NM_001009996.2:c.1466T>G (DALRD3) | NP_001009996.1:p.Leu489Arg | |
| NM_001276405.1:c.1440T>G (DALRD3) | NP_001263334.1:p.Ala480= | |
| NM_018031.3:c.*562A>C (WDR6) | NP_060501.3:n.*562A>C | |
| NM_018114.5:c.965T>G (DALRD3) | NP_060584.3:p.Leu322Arg | |
| XM_005264837.3:c.*562A>C (WDR6) | XP_005264894.1:n.*562A>C | |
| XM_005265269.3:c.1466T>G (DALRD3) | XP_005265326.1:p.Leu489Arg | |
| XM_006713219.2:c.965T>G (DALRD3) | XP_006713282.1:p.Leu322Arg | |
| XM_011533314.1:c.*562A>C (WDR6) | XP_011531616.1:n.*562A>C | |
| XM_011533891.1:c.1566T>G (DALRD3) | XP_011532193.1:p.Ala522= | |
| XM_011533892.1:c.965T>G (DALRD3) | XP_011532194.1:p.Leu322Arg | |
| XM_011533893.1:c.*519T>G (DALRD3) | XP_011532195.1:n.*519T>G | |
| XR_940464.1:n.1429T>G (DALRD3) | ||
| NM_001320546.2:c.*562A>C (WDR6) | NP_001307475.1:n.*562A>C | |
| NM_001320547.1:c.*562A>C (WDR6) | NP_001307476.1:n.*562A>C | |
| NM_018031.5:c.*562A>C (WDR6) | NP_060501.4:n.*562A>C | |
| XM_005265269.4:c.1466T>G (DALRD3) | XP_005265326.1:p.Leu489Arg | |
| XM_011533891.2:c.1566T>G (DALRD3) | XP_011532193.1:p.Ala522= | |
| XM_011533892.2:c.965T>G (DALRD3) | XP_011532194.1:p.Leu322Arg | |
| XM_011533893.2:c.*519T>G (DALRD3) | XP_011532195.1:n.*519T>G | |
| XM_017006723.1:c.939T>G (DALRD3) | XP_016862212.1:p.Ala313= | |
| XR_940464.3:n.1424T>G (DALRD3) | ||
| NM_001009996.3:c.1466T>G (DALRD3) MANE Select | NP_001009996.1:p.Leu489Arg | |
| NM_018031.6:c.*562A>C (WDR6) MANE Select | NP_060501.4:n.*562A>C | |
| NM_001276405.2:c.1440T>G (DALRD3) | NP_001263334.1:p.Ala480= | |
| NM_001320546.3:c.*562A>C (WDR6) | NP_001307475.1:n.*562A>C | |
| NM_001320547.2:c.*562A>C (WDR6) | NP_001307476.1:n.*562A>C | |
| NM_018114.6:c.965T>G (DALRD3) | NP_060584.3:p.Leu322Arg |