Revel Score:
ENST00000329841 (MANE Select)
0.309
ENST00000346623
0.309
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000442 (AFR)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100914711G>A , CM000677.2:g.100914711G>A | GRCh38 |
| NC_000015.9:g.101454916G>A , CM000677.1:g.101454916G>A | GRCh37 |
| NC_000015.8:g.99272439G>A | NCBI36 |
| NG_012254.1:g.39908G>A | |
| NG_052791.1:g.695G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329841.10:c.1477G>A (ALDH1A3) MANE Select | ENSP00000332256.5:p.Ala493Thr | |
| ENST00000329841.9:c.1477G>A (ALDH1A3) | ENSP00000332256.5:p.Ala493Thr | |
| ENST00000346623.6:c.1156G>A (ALDH1A3) | ENSP00000343294.6:p.Ala386Thr | |
| NM_000693.3:c.1477G>A (ALDH1A3) | NP_000684.2:p.Ala493Thr | |
| NM_001293815.1:c.1156G>A (ALDH1A3) | NP_001280744.1:p.Ala386Thr | |
| NR_135827.1:n.480+4093C>T (ALDH1A3-AS1) | ||
| NR_135828.1:n.1750C>T (ALDH1A3-AS1) | ||
| NR_135831.1:n.2666C>T (ALDH1A3-AS1) | ||
| NM_000693.4:c.1477G>A (ALDH1A3) MANE Select | NP_000684.2:p.Ala493Thr | |
| NM_001293815.2:c.1156G>A (ALDH1A3) | NP_001280744.1:p.Ala386Thr |