Linked Data
ClinVar Variation Id:
529479
ClinVar RCV Id:
RCV000634931
dbSNP Id:
rs1251540347
gnomAD v3:
6-24495112-C-G
gnomAD v4:
6-24495112-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24495112C>G , CM000668.2:g.24495112C>G | GRCh38 |
| NC_000006.11:g.24495340C>G , CM000668.1:g.24495340C>G | GRCh37 |
| NC_000006.10:g.24603319C>G | NCBI36 |
| NG_008161.1:g.5144C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.116C>G (ALDH5A1) MANE Select | ENSP00000350191.3:p.Pro39Arg | |
| ENST00000672652.1:c.37C>G (ALDH5A1) | ||
| ENST00000348925.2:c.116C>G (ALDH5A1) | ENSP00000314649.3:p.Pro39Arg | |
| ENST00000357578.7:c.116C>G (ALDH5A1) | ENSP00000350191.3:p.Pro39Arg | |
| ENST00000474784.5:n.94G>C (GPLD1) | ||
| ENST00000475417.1:n.88G>C (GPLD1) | ||
| ENST00000491546.5:c.116C>G (ALDH5A1) | ENSP00000417687.1:p.Pro39Arg | |
| NM_001080.3:c.116C>G (ALDH5A1) MANE Select | NP_001071.1:p.Pro39Arg | |
| NM_170740.1:c.116C>G (ALDH5A1) | NP_733936.1:p.Pro39Arg | |
| XM_017010753.2:c.-102G>C (GPLD1) | XP_016866242.1:n.-102G>C | |
| XR_002956277.1:n.121G>C (GPLD1) | ||
| NM_001368954.1:c.116C>G (ALDH5A1) | NP_001355883.1:p.Pro39Arg |