gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33125134 (MID)
Genomes Max Group AF
0.32146496 (AFR)
Exomes Max Group AF
0.32354117 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.105475180C>T , CM000675.2:g.105475180C>T | GRCh38 |
| NC_000013.10:g.106127529C>T , CM000675.1:g.106127529C>T | GRCh37 |
| NC_000013.9:g.104925530C>T | NCBI36 |
| NG_012694.1:g.14314C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375936.9:c.281+2495C>T (DAOA) MANE Select | ENSP00000365103.3:n.281+2495C>T | |
| ENST00000375936.8:c.281+2495C>T (DAOA) | ENSP00000365103.3:n.281+2495C>T | |
| ENST00000471432.3:c.388+110C>T (DAOA) | ||
| ENST00000329625.9:c.68+2495C>T (DAOA) | ENSP00000329951.5:n.68+2495C>T | |
| ENST00000375936.7:c.281+2495C>T (DAOA) | ENSP00000365103.3:n.281+2495C>T | |
| ENST00000471432.2:c.387+111C>T (DAOA) | ||
| ENST00000473269.5:c.375+110C>T (DAOA) | ENSP00000470244.1:n.375+110C>T | |
| ENST00000488534.5:c.162+110C>T (DAOA) | ENSP00000471091.1:n.162+110C>T | |
| ENST00000489237.6:c.*84+2495C>T (DAOA) | ENSP00000472676.1:n.*84+2495C>T | |
| ENST00000559369.5:c.68+2495C>T (DAOA) | ENSP00000453831.1:n.68+2495C>T | |
| ENST00000595812.2:c.88+2495C>T (DAOA) | ENSP00000469539.1:n.88+2495C>T | |
| ENST00000600388.5:c.68+2495C>T (DAOA) | ENSP00000472260.1:n.68+2495C>T | |
| ENST00000601240.5:c.281+2495C>T (DAOA) | ENSP00000471306.1:n.281+2495C>T | |
| ENST00000618629.1:c.281+2495C>T (DAOA) | ENSP00000483757.1:n.281+2495C>T | |
| NM_001161812.1:c.88+2495C>T (DAOA) | NP_001155284.1:n.88+2495C>T | |
| NM_001161814.1:c.68+2495C>T (DAOA) | NP_001155286.1:n.68+2495C>T | |
| NM_172370.4:c.281+2495C>T (DAOA) | NP_758958.3:n.281+2495C>T | |
| NR_040247.1:n.506-8760G>A (DAOA-AS1) | ||
| XM_005254042.1:c.375+110C>T (DAOA) | XP_005254099.1:n.375+110C>T | |
| NM_001384644.1:c.375+110C>T (DAOA) | NP_001371573.1:n.375+110C>T | |
| NM_001384645.1:c.74+110C>T (DAOA) | NP_001371574.1:n.74+110C>T | |
| NM_001384646.1:c.68+2495C>T (DAOA) | NP_001371575.1:n.68+2495C>T | |
| NM_172370.5:c.281+2495C>T (DAOA) MANE Select | NP_758958.3:n.281+2495C>T |