Linked Data
ClinVar Variation Id:
1049955
ClinVar RCV Id:
RCV002547642
dbSNP Id:
rs547918064
ExAC:
15:101438352 G / T
gnomAD v2:
15-101438352-G-T
gnomAD v3:
15-100898147-G-T
gnomAD v4:
15-100898147-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100898147G>T , CM000677.2:g.100898147G>T | GRCh38 |
| NC_000015.9:g.101438352G>T , CM000677.1:g.101438352G>T | GRCh37 |
| NC_000015.8:g.99255875G>T | NCBI36 |
| NG_012254.1:g.23344G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329841.10:c.845G>T (ALDH1A3) MANE Select | ENSP00000332256.5:p.Gly282Val | |
| ENST00000329841.9:c.845G>T (ALDH1A3) | ENSP00000332256.5:p.Gly282Val | |
| ENST00000346623.6:c.524G>T (ALDH1A3) | ENSP00000343294.6:p.Gly175Val | |
| ENST00000558869.1:n.88G>T (ALDH1A3) | ||
| NM_000693.3:c.845G>T (ALDH1A3) | NP_000684.2:p.Gly282Val | |
| NM_001293815.1:c.524G>T (ALDH1A3) | NP_001280744.1:p.Gly175Val | |
| NR_135827.1:n.481-2081C>A (ALDH1A3-AS1) | ||
| NM_000693.4:c.845G>T (ALDH1A3) MANE Select | NP_000684.2:p.Gly282Val | |
| NM_001293815.2:c.524G>T (ALDH1A3) | NP_001280744.1:p.Gly175Val |