Linked Data
ClinVar Variation Id:
284542
dbSNP Id:
rs753168976
ExAC:
6:24495274 C / T
gnomAD v2:
6-24495274-C-T
gnomAD v3:
6-24495046-C-T
gnomAD v4:
6-24495046-C-T
COSMIC:
COSM5631341
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24495046C>T , CM000668.2:g.24495046C>T | GRCh38 |
| NC_000006.11:g.24495274C>T , CM000668.1:g.24495274C>T | GRCh37 |
| NC_000006.10:g.24603253C>T | NCBI36 |
| NG_008161.1:g.5078C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.50C>T (ALDH5A1) MANE Select | ENSP00000350191.3:p.Ser17Leu | |
| ENST00000348925.2:c.50C>T (ALDH5A1) | ENSP00000314649.3:p.Ser17Leu | |
| ENST00000357578.7:c.50C>T (ALDH5A1) | ENSP00000350191.3:p.Ser17Leu | |
| ENST00000474784.5:n.160G>A (GPLD1) | ||
| ENST00000475417.1:n.154G>A (GPLD1) | ||
| ENST00000491546.5:c.50C>T (ALDH5A1) | ENSP00000417687.1:p.Ser17Leu | |
| NM_001080.3:c.50C>T (ALDH5A1) MANE Select | NP_001071.1:p.Ser17Leu | |
| NM_170740.1:c.50C>T (ALDH5A1) | NP_733936.1:p.Ser17Leu | |
| XM_017010753.2:c.-36G>A (GPLD1) | XP_016866242.1:n.-36G>A | |
| XR_002956277.1:n.187G>A (GPLD1) | ||
| NM_001368954.1:c.50C>T (ALDH5A1) | NP_001355883.1:p.Ser17Leu |