Linked Data
ClinVar Variation Id:
459979
dbSNP Id:
rs200398000
ExAC:
6:24495237 A / G
gnomAD v2:
6-24495237-A-G
gnomAD v3:
6-24495009-A-G
gnomAD v4:
6-24495009-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24495009A>G , CM000668.2:g.24495009A>G | GRCh38 |
| NC_000006.11:g.24495237A>G , CM000668.1:g.24495237A>G | GRCh37 |
| NC_000006.10:g.24603216A>G | NCBI36 |
| NG_008161.1:g.5041A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.13A>G (ALDH5A1) MANE Select | ENSP00000350191.3:p.Ile5Val | |
| ENST00000348925.2:c.13A>G (ALDH5A1) | ENSP00000314649.3:p.Ile5Val | |
| ENST00000357578.7:c.13A>G (ALDH5A1) | ENSP00000350191.3:p.Ile5Val | |
| ENST00000474784.5:n.197T>C (GPLD1) | ||
| ENST00000475417.1:n.191T>C (GPLD1) | ||
| ENST00000491546.5:c.13A>G (ALDH5A1) | ENSP00000417687.1:p.Ile5Val | |
| NM_001080.3:c.13A>G (ALDH5A1) MANE Select | NP_001071.1:p.Ile5Val | |
| NM_170740.1:c.13A>G (ALDH5A1) | NP_733936.1:p.Ile5Val | |
| XM_011514509.1:c.2T>C (GPLD1) | XP_011512811.1:p.Met1Thr | |
| XM_017010753.2:c.2T>C (GPLD1) | XP_016866242.1:p.Met1Thr | |
| XR_002956277.1:n.224T>C (GPLD1) | ||
| NM_001368954.1:c.13A>G (ALDH5A1) | NP_001355883.1:p.Ile5Val |