Linked Data
ClinVar Variation Id:
288703
dbSNP Id:
rs200793796
ExAC:
6:24495234 T / G
gnomAD v2:
6-24495234-T-G
gnomAD v3:
6-24495006-T-G
gnomAD v4:
6-24495006-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24495006T>G , CM000668.2:g.24495006T>G | GRCh38 |
| NC_000006.11:g.24495234T>G , CM000668.1:g.24495234T>G | GRCh37 |
| NC_000006.10:g.24603213T>G | NCBI36 |
| NG_008161.1:g.5038T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.10T>G (ALDH5A1) MANE Select | ENSP00000350191.3:p.Cys4Gly | |
| ENST00000348925.2:c.10T>G (ALDH5A1) | ENSP00000314649.3:p.Cys4Gly | |
| ENST00000357578.7:c.10T>G (ALDH5A1) | ENSP00000350191.3:p.Cys4Gly | |
| ENST00000474784.5:n.200A>C (GPLD1) | ||
| ENST00000475417.1:n.194A>C (GPLD1) | ||
| ENST00000491546.5:c.10T>G (ALDH5A1) | ENSP00000417687.1:p.Cys4Gly | |
| NM_001080.3:c.10T>G (ALDH5A1) MANE Select | NP_001071.1:p.Cys4Gly | |
| NM_170740.1:c.10T>G (ALDH5A1) | NP_733936.1:p.Cys4Gly | |
| XM_011514509.1:c.5A>C (GPLD1) | XP_011512811.1:p.Gln2Pro | |
| XM_017010753.2:c.5A>C (GPLD1) | XP_016866242.1:p.Gln2Pro | |
| XR_002956277.1:n.227A>C (GPLD1) | ||
| NM_001368954.1:c.10T>G (ALDH5A1) | NP_001355883.1:p.Cys4Gly |