Revel Score:
ENST00000329841 (MANE Select)
0.436
ENST00000346623
0.436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100914711G>C , CM000677.2:g.100914711G>C | GRCh38 |
| NC_000015.9:g.101454916G>C , CM000677.1:g.101454916G>C | GRCh37 |
| NC_000015.8:g.99272439G>C | NCBI36 |
| NG_012254.1:g.39908G>C | |
| NG_052791.1:g.695G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329841.10:c.1477G>C (ALDH1A3) MANE Select | ENSP00000332256.5:p.Ala493Pro | |
| ENST00000329841.9:c.1477G>C (ALDH1A3) | ENSP00000332256.5:p.Ala493Pro | |
| ENST00000346623.6:c.1156G>C (ALDH1A3) | ENSP00000343294.6:p.Ala386Pro | |
| NM_000693.3:c.1477G>C (ALDH1A3) | NP_000684.2:p.Ala493Pro | |
| NM_001293815.1:c.1156G>C (ALDH1A3) | NP_001280744.1:p.Ala386Pro | |
| NR_135827.1:n.480+4093C>G (ALDH1A3-AS1) | ||
| NR_135828.1:n.1750C>G (ALDH1A3-AS1) | ||
| NR_135831.1:n.2666C>G (ALDH1A3-AS1) | ||
| NM_000693.4:c.1477G>C (ALDH1A3) MANE Select | NP_000684.2:p.Ala493Pro | |
| NM_001293815.2:c.1156G>C (ALDH1A3) | NP_001280744.1:p.Ala386Pro |