Linked Data
ClinVar Variation Id:
529478
ClinVar RCV Id:
RCV000634930
dbSNP Id:
rs1336249565
gnomAD v3:
6-24495198-C-T
gnomAD v4:
6-24495198-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24495198C>T , CM000668.2:g.24495198C>T | GRCh38 |
| NC_000006.11:g.24495426C>T , CM000668.1:g.24495426C>T | GRCh37 |
| NC_000006.10:g.24603405C>T | NCBI36 |
| NG_008161.1:g.5230C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.202C>T (ALDH5A1) MANE Select | ENSP00000350191.3:p.Arg68Cys | |
| ENST00000672652.1:c.123C>T (ALDH5A1) | ||
| ENST00000348925.2:c.202C>T (ALDH5A1) | ENSP00000314649.3:p.Arg68Cys | |
| ENST00000357578.7:c.202C>T (ALDH5A1) | ENSP00000350191.3:p.Arg68Cys | |
| ENST00000474784.5:n.8G>A (GPLD1) | ||
| ENST00000475417.1:n.2G>A (GPLD1) | ||
| ENST00000491546.5:c.202C>T (ALDH5A1) | ENSP00000417687.1:p.Arg68Cys | |
| NM_001080.3:c.202C>T (ALDH5A1) MANE Select | NP_001071.1:p.Arg68Cys | |
| NM_170740.1:c.202C>T (ALDH5A1) | NP_733936.1:p.Arg68Cys | |
| XM_017010753.2:c.-188G>A (GPLD1) | XP_016866242.1:n.-188G>A | |
| XR_002956277.1:n.35G>A (GPLD1) | ||
| NM_001368954.1:c.202C>T (ALDH5A1) | NP_001355883.1:p.Arg68Cys |