gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02552911 (MID)
Genomes Max Group AF
0.0201125 (SAS)
Exomes Max Group AF
0.02553061 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74071909T>C , CM000676.2:g.74071909T>C | GRCh38 |
| NC_000014.8:g.74538612T>C , CM000676.1:g.74538612T>C | GRCh37 |
| NC_000014.7:g.73608365T>C | NCBI36 |
| NG_012257.2:g.17585A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553458.6:c.414A>G (ALDH6A1) MANE Select | ENSP00000450436.1:p.Val138= | |
| ENST00000350259.8:c.375A>G (ALDH6A1) | ENSP00000342564.4:p.Val125= | |
| ENST00000492026.4:n.1380-6287T>C (BBOF1) | ||
| ENST00000553458.5:c.414A>G (ALDH6A1) | ENSP00000450436.1:p.Val138= | |
| ENST00000553814.5:n.365A>G (ALDH6A1) | ||
| ENST00000554231.5:n.512A>G (ALDH6A1) | ||
| ENST00000554501.5:n.469A>G (ALDH6A1) | ||
| ENST00000556852.1:n.695A>G (ALDH6A1) | ||
| NM_001278593.1:c.375A>G (ALDH6A1) | NP_001265522.1:p.Val125= | |
| NM_001278594.1:c.-212A>G (ALDH6A1) | NP_001265523.1:n.-212A>G | |
| NM_005589.3:c.414A>G (ALDH6A1) | NP_005580.1:p.Val138= | |
| XM_011537172.1:c.1687-6287T>C (BBOF1) | XP_011535474.1:n.1687-6287T>C | |
| XM_011537173.1:c.1694-6287T>C (BBOF1) | XP_011535475.1:n.1694-6287T>C | |
| XM_017021331.2:c.-121A>G (ALDH6A1) | XP_016876820.1:n.-121A>G | |
| XM_017021659.1:c.1579-6287T>C (BBOF1) | XP_016877148.1:n.1579-6287T>C | |
| NM_001278593.2:c.375A>G (ALDH6A1) | NP_001265522.1:p.Val125= | |
| NM_001278594.2:c.-212A>G (ALDH6A1) | NP_001265523.1:n.-212A>G | |
| NM_005589.4:c.414A>G (ALDH6A1) MANE Select | NP_005580.1:p.Val138= |