gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56471991 (AFR)
Genomes Max Group AF
0.56471991 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.126185322A>G , CM000665.2:g.126185322A>G | GRCh38 |
| NC_000003.11:g.125904165A>G , CM000665.1:g.125904165A>G | GRCh37 |
| NC_000003.10:g.127386855A>G | NCBI36 |
| NG_012260.1:g.321T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509952.5:c.-24+12413T>C (ALDH1L1) | ENSP00000426594.1:n.-24+12413T>C | |
| ENST00000511283.2:c.-24+12413T>C (ALDH1L1) | ENSP00000426713.1:n.-24+12413T>C | |
| NR_046383.1:n.480+4778A>G (ALDH1L1-AS2) | ||
| XM_024453325.1:c.-24+12413T>C (ALDH1L1) | XP_024309093.1:n.-24+12413T>C |