Linked Data
ClinVar Variation Id:
287323
dbSNP Id:
rs373489149
ExAC:
19:55670800 C / T
gnomAD v2:
19-55670800-C-T
gnomAD v3:
19-55159432-C-T
gnomAD v4:
19-55159432-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55159432C>T , CM000681.2:g.55159432C>T | GRCh38 |
| NC_000019.9:g.55670800C>T , CM000681.1:g.55670800C>T | GRCh37 |
| NC_000019.8:g.60362612C>T | NCBI36 |
| NG_007866.2:g.3301G>A , LRG_432:g.3301G>A | |
| NG_032759.1:g.12291G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524407.7:c.1256G>A (DNAAF3) MANE Select | ENSP00000432046.3:p.Arg419Gln | |
| ENST00000391720.8:c.1397G>A (DNAAF3) | ENSP00000375600.5:p.Arg466Gln | |
| ENST00000455045.5:c.1094G>A (DNAAF3) | ENSP00000394343.1:p.Arg365Gln | |
| ENST00000524407.6:c.1256G>A (DNAAF3) | ENSP00000432046.2:p.Arg419Gln | |
| ENST00000527223.6:c.1457G>A (DNAAF3) | ENSP00000436975.2:p.Arg486Gln | |
| ENST00000528412.5:c.*1044G>A (DNAAF3) | ENSP00000433826.2:n.*1044G>A | |
| ENST00000533527.6:n.1018G>A (DNAAF3) | ||
| ENST00000587789.2:n.341G>A (DNAAF3) | ||
| ENST00000587871.1:c.240G>A | ||
| ENST00000588076.1:c.255G>A (DNAAF3) | ||
| NM_001256714.1:c.1457G>A (DNAAF3) | NP_001243643.1:p.Arg486Gln | |
| NM_001256715.1:c.1256G>A (DNAAF3) | NP_001243644.1:p.Arg419Gln | |
| NM_001256716.1:c.1094G>A (DNAAF3) | NP_001243645.1:p.Arg365Gln | |
| NM_178837.4:c.1397G>A (DNAAF3) | NP_849159.2:p.Arg466Gln | |
| XR_001754014.1:n.74C>T (DNAAF3-AS1) | ||
| XR_001754015.1:n.94C>T (DNAAF3-AS1) | ||
| NM_001256715.2:c.1256G>A (DNAAF3) MANE Select | NP_001243644.1:p.Arg419Gln | |
| NM_001256716.2:c.1094G>A (DNAAF3) | NP_001243645.1:p.Arg365Gln |