gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54795153 (EAS)
Genomes Max Group AF
0.54795153 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.105486017C>T , CM000675.2:g.105486017C>T | GRCh38 |
| NC_000013.10:g.106138366C>T , CM000675.1:g.106138366C>T | GRCh37 |
| NC_000013.9:g.104936367C>T | NCBI36 |
| NG_012694.1:g.25151C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375936.9:c.282-3884C>T (DAOA) MANE Select | ENSP00000365103.3:n.282-3884C>T | |
| ENST00000375936.8:c.282-3884C>T (DAOA) | ENSP00000365103.3:n.282-3884C>T | |
| ENST00000471432.3:c.485-3775C>T (DAOA) | ||
| ENST00000329625.9:c.69-3884C>T (DAOA) | ENSP00000329951.5:n.69-3884C>T | |
| ENST00000375936.7:c.282-3884C>T (DAOA) | ENSP00000365103.3:n.282-3884C>T | |
| ENST00000471432.2:c.484-3775C>T (DAOA) | ||
| ENST00000473269.5:c.376-3884C>T (DAOA) | ENSP00000470244.1:n.376-3884C>T | |
| ENST00000488534.5:c.163-3884C>T (DAOA) | ENSP00000471091.1:n.163-3884C>T | |
| ENST00000489237.6:c.*85-3884C>T (DAOA) | ENSP00000472676.1:n.*85-3884C>T | |
| ENST00000559369.5:c.69-3884C>T (DAOA) | ENSP00000453831.1:n.69-3884C>T | |
| ENST00000595812.2:c.89-3775C>T (DAOA) | ENSP00000469539.1:n.89-3775C>T | |
| ENST00000600388.5:c.69-3884C>T (DAOA) | ENSP00000472260.1:n.69-3884C>T | |
| ENST00000601240.5:c.282-3775C>T (DAOA) | ENSP00000471306.1:n.282-3775C>T | |
| ENST00000618629.1:c.282-3884C>T (DAOA) | ENSP00000483757.1:n.282-3884C>T | |
| NM_001161812.1:c.89-3775C>T (DAOA) | NP_001155284.1:n.89-3775C>T | |
| NM_001161814.1:c.69-3884C>T (DAOA) | NP_001155286.1:n.69-3884C>T | |
| NM_172370.4:c.282-3884C>T (DAOA) | NP_758958.3:n.282-3884C>T | |
| NR_040247.1:n.505+3759G>A (DAOA-AS1) | ||
| XM_005254042.1:c.376-3884C>T (DAOA) | XP_005254099.1:n.376-3884C>T | |
| NM_001384644.1:c.376-3884C>T (DAOA) | NP_001371573.1:n.376-3884C>T | |
| NM_001384645.1:c.75-3884C>T (DAOA) | NP_001371574.1:n.75-3884C>T | |
| NM_001384646.1:c.69-3884C>T (DAOA) | NP_001371575.1:n.69-3884C>T | |
| NM_172370.5:c.282-3884C>T (DAOA) MANE Select | NP_758958.3:n.282-3884C>T |