Linked Data
ClinVar Variation Id:
257685
ClinVar RCV Id:
RCV001675706
dbSNP Id:
rs111250144
ExAC:
19:55670808 C / T
gnomAD v2:
19-55670808-C-T
gnomAD v3:
19-55159440-C-T
gnomAD v4:
19-55159440-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55159440C>T , CM000681.2:g.55159440C>T | GRCh38 |
| NC_000019.9:g.55670808C>T , CM000681.1:g.55670808C>T | GRCh37 |
| NC_000019.8:g.60362620C>T | NCBI36 |
| NG_007866.2:g.3293G>A , LRG_432:g.3293G>A | |
| NG_032759.1:g.12283G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524407.7:c.1248G>A (DNAAF3) MANE Select | ENSP00000432046.3:p.Val416= | |
| ENST00000391720.8:c.1389G>A (DNAAF3) | ENSP00000375600.5:p.Val463= | |
| ENST00000455045.5:c.1086G>A (DNAAF3) | ENSP00000394343.1:p.Val362= | |
| ENST00000524407.6:c.1248G>A (DNAAF3) | ENSP00000432046.2:p.Val416= | |
| ENST00000527223.6:c.1449G>A (DNAAF3) | ENSP00000436975.2:p.Val483= | |
| ENST00000528412.5:c.*1036G>A (DNAAF3) | ENSP00000433826.2:n.*1036G>A | |
| ENST00000533527.6:n.1010G>A (DNAAF3) | ||
| ENST00000587789.2:n.333G>A (DNAAF3) | ||
| ENST00000587871.1:c.232G>A | ||
| ENST00000588076.1:c.247G>A (DNAAF3) | ||
| NM_001256714.1:c.1449G>A (DNAAF3) | NP_001243643.1:p.Val483= | |
| NM_001256715.1:c.1248G>A (DNAAF3) | NP_001243644.1:p.Val416= | |
| NM_001256716.1:c.1086G>A (DNAAF3) | NP_001243645.1:p.Val362= | |
| NM_178837.4:c.1389G>A (DNAAF3) | NP_849159.2:p.Val463= | |
| XR_001754014.1:n.82C>T (DNAAF3-AS1) | ||
| XR_001754015.1:n.102C>T (DNAAF3-AS1) | ||
| NM_001256715.2:c.1248G>A (DNAAF3) MANE Select | NP_001243644.1:p.Val416= | |
| NM_001256716.2:c.1086G>A (DNAAF3) | NP_001243645.1:p.Val362= |