gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0018877 (NFE)
Genomes Max Group AF
0.00179317 (NFE)
Exomes Max Group AF
0.00185337 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74060408G>A , CM000676.2:g.74060408G>A | GRCh38 |
| NC_000014.8:g.74527111G>A , CM000676.1:g.74527111G>A | GRCh37 |
| NC_000014.7:g.73596864G>A | NCBI36 |
| NG_012257.2:g.29086C>T | |
| NG_033060.1:g.46053G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394009.5:c.1578+3150G>A (BBOF1) MANE Select | ENSP00000377577.3:n.1578+3150G>A | |
| ENST00000553458.6:c.*234C>T (ALDH6A1) MANE Select | ENSP00000450436.1:n.*234C>T | |
| ENST00000350259.8:c.*234C>T (ALDH6A1) | ENSP00000342564.4:n.*234C>T | |
| ENST00000394009.4:c.1578+3150G>A (BBOF1) | ENSP00000377577.3:n.1578+3150G>A | |
| ENST00000492026.4:n.1379+3150G>A (BBOF1) | ||
| ENST00000553458.5:c.*234C>T (ALDH6A1) | ENSP00000450436.1:n.*234C>T | |
| ENST00000554501.5:n.2060C>T (ALDH6A1) | ||
| NM_001278593.1:c.*234C>T (ALDH6A1) | NP_001265522.1:n.*234C>T | |
| NM_001278594.1:c.*234C>T (ALDH6A1) | NP_001265523.1:n.*234C>T | |
| NM_005589.3:c.*234C>T (ALDH6A1) | NP_005580.1:n.*234C>T | |
| NM_025057.2:c.1578+3150G>A (BBOF1) | NP_079333.2:n.1578+3150G>A | |
| XM_011537171.1:c.1693+3143G>A (BBOF1) | XP_011535473.1:n.1693+3143G>A | |
| XM_011537172.1:c.1686+3150G>A (BBOF1) | XP_011535474.1:n.1686+3150G>A | |
| XM_011537173.1:c.1693+3143G>A (BBOF1) | XP_011535475.1:n.1693+3143G>A | |
| XM_011537174.1:c.1686+3150G>A (BBOF1) | XP_011535476.1:n.1686+3150G>A | |
| XM_011537171.2:c.1693+3143G>A (BBOF1) | XP_011535473.1:n.1693+3143G>A | |
| XM_011537174.2:c.1686+3150G>A (BBOF1) | XP_011535476.1:n.1686+3150G>A | |
| XM_017021331.2:c.*234C>T (ALDH6A1) | XP_016876820.1:n.*234C>T | |
| XM_017021659.1:c.1578+3150G>A (BBOF1) | XP_016877148.1:n.1578+3150G>A | |
| XM_017021660.1:c.1165+3143G>A (BBOF1) | XP_016877149.1:n.1165+3143G>A | |
| XM_017021661.1:c.1158+3150G>A (BBOF1) | XP_016877150.1:n.1158+3150G>A | |
| XM_017021662.1:c.966+3150G>A (BBOF1) | XP_016877151.1:n.966+3150G>A | |
| XM_017021663.1:c.939+3150G>A (BBOF1) | XP_016877152.1:n.939+3150G>A | |
| NM_025057.3:c.1578+3150G>A (BBOF1) MANE Select | NP_079333.2:n.1578+3150G>A | |
| NM_001278593.2:c.*234C>T (ALDH6A1) | NP_001265522.1:n.*234C>T | |
| NM_001278594.2:c.*234C>T (ALDH6A1) | NP_001265523.1:n.*234C>T | |
| NM_005589.4:c.*234C>T (ALDH6A1) MANE Select | NP_005580.1:n.*234C>T |