COSMIC:
COSM3753569 (not active)
Revel Score:
ENST00000375936 (MANE Select)
0.062
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66897879 (EAS)
Genomes Max Group AF
0.61244843 (EAS)
Exomes Max Group AF
0.67441699 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.105467097G>A , CM000675.2:g.105467097G>A | GRCh38 |
| NC_000013.10:g.106119446G>A , CM000675.1:g.106119446G>A | GRCh37 |
| NC_000013.9:g.104917447G>A | NCBI36 |
| NG_012694.1:g.6231G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375936.9:c.89G>A (DAOA) MANE Select | ENSP00000365103.3:p.Arg30Lys | |
| ENST00000375936.8:c.89G>A (DAOA) | ENSP00000365103.3:p.Arg30Lys | |
| ENST00000329625.9:c.-125G>A (DAOA) | ENSP00000329951.5:n.-125G>A | |
| ENST00000375936.7:c.89G>A (DAOA) | ENSP00000365103.3:p.Arg30Lys | |
| ENST00000473269.5:c.89G>A (DAOA) | ENSP00000470244.1:p.Arg30Lys | |
| ENST00000488534.5:c.-125G>A (DAOA) | ENSP00000471091.1:n.-125G>A | |
| ENST00000489237.6:c.89G>A (DAOA) | ENSP00000472676.1:p.Arg30Lys | |
| ENST00000559369.5:c.-125G>A (DAOA) | ENSP00000453831.1:n.-125G>A | |
| ENST00000595812.2:c.-105G>A (DAOA) | ENSP00000469539.1:n.-105G>A | |
| ENST00000600388.5:c.-125G>A (DAOA) | ENSP00000472260.1:n.-125G>A | |
| ENST00000601240.5:c.89G>A (DAOA) | ENSP00000471306.1:p.Arg30Lys | |
| ENST00000618629.1:c.89G>A (DAOA) | ENSP00000483757.1:p.Arg30Lys | |
| NM_001161812.1:c.-105G>A (DAOA) | NP_001155284.1:n.-105G>A | |
| NM_001161814.1:c.-125G>A (DAOA) | NP_001155286.1:n.-125G>A | |
| NM_172370.4:c.89G>A (DAOA) | NP_758958.3:p.Arg30Lys | |
| NR_040247.1:n.506-677C>T (DAOA-AS1) | ||
| XM_005254042.1:c.89G>A (DAOA) | XP_005254099.1:p.Arg30Lys | |
| NM_001384644.1:c.89G>A (DAOA) | NP_001371573.1:p.Arg30Lys | |
| NM_001384645.1:c.-213G>A (DAOA) | NP_001371574.1:n.-213G>A | |
| NM_001384646.1:c.-125G>A (DAOA) | NP_001371575.1:n.-125G>A | |
| NM_172370.5:c.89G>A (DAOA) MANE Select | NP_758958.3:p.Arg30Lys |