Linked Data
ClinVar Variation Id:
285783
dbSNP Id:
rs4646832
ExAC:
6:24495330 G / C
gnomAD v2:
6-24495330-G-C
gnomAD v3:
6-24495102-G-C
gnomAD v4:
6-24495102-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24495102G>C , CM000668.2:g.24495102G>C | GRCh38 |
| NC_000006.11:g.24495330G>C , CM000668.1:g.24495330G>C | GRCh37 |
| NC_000006.10:g.24603309G>C | NCBI36 |
| NG_008161.1:g.5134G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.106G>C (ALDH5A1) MANE Select | ENSP00000350191.3:p.Gly36Arg | |
| ENST00000672652.1:c.27G>C (ALDH5A1) | ||
| ENST00000348925.2:c.106G>C (ALDH5A1) | ENSP00000314649.3:p.Gly36Arg | |
| ENST00000357578.7:c.106G>C (ALDH5A1) | ENSP00000350191.3:p.Gly36Arg | |
| ENST00000474784.5:n.104C>G (GPLD1) | ||
| ENST00000475417.1:n.98C>G (GPLD1) | ||
| ENST00000491546.5:c.106G>C (ALDH5A1) | ENSP00000417687.1:p.Gly36Arg | |
| NM_001080.3:c.106G>C (ALDH5A1) MANE Select | NP_001071.1:p.Gly36Arg | |
| NM_170740.1:c.106G>C (ALDH5A1) | NP_733936.1:p.Gly36Arg | |
| XM_017010753.2:c.-92C>G (GPLD1) | XP_016866242.1:n.-92C>G | |
| XR_002956277.1:n.131C>G (GPLD1) | ||
| NM_001368954.1:c.106G>C (ALDH5A1) | NP_001355883.1:p.Gly36Arg |