Linked Data
ClinVar Variation Id:
330211
ClinVar RCV Id:
RCV000280281
dbSNP Id:
rs199590885
ExAC:
19:55671382 C / T
gnomAD v2:
19-55671382-C-T
gnomAD v3:
19-55160014-C-T
gnomAD v4:
19-55160014-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55160014C>T , CM000681.2:g.55160014C>T | GRCh38 |
| NC_000019.9:g.55671382C>T , CM000681.1:g.55671382C>T | GRCh37 |
| NC_000019.8:g.60363194C>T | NCBI36 |
| NG_007866.2:g.2719G>A , LRG_432:g.2719G>A | |
| NG_032759.1:g.11709G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524407.7:c.1049-1G>A (DNAAF3) MANE Select | ENSP00000432046.3:n.1049-1G>A | |
| ENST00000391720.8:c.1190-1G>A (DNAAF3) | ENSP00000375600.5:n.1190-1G>A | |
| ENST00000455045.5:c.887-1G>A (DNAAF3) | ENSP00000394343.1:n.887-1G>A | |
| ENST00000524407.6:c.1049-1G>A (DNAAF3) | ENSP00000432046.2:n.1049-1G>A | |
| ENST00000527223.6:c.1253-4G>A (DNAAF3) | ENSP00000436975.2:n.1253-4G>A | |
| ENST00000528412.5:c.*837-1G>A (DNAAF3) | ENSP00000433826.2:n.*837-1G>A | |
| ENST00000533527.6:n.811-1G>A (DNAAF3) | ||
| ENST00000587789.2:n.21-1G>A (DNAAF3) | ||
| ENST00000587871.1:c.33-1G>A | ||
| ENST00000588076.1:c.51-4G>A (DNAAF3) | ||
| NM_001256714.1:c.1253-4G>A (DNAAF3) | NP_001243643.1:n.1253-4G>A | |
| NM_001256715.1:c.1049-1G>A (DNAAF3) | NP_001243644.1:n.1049-1G>A | |
| NM_001256716.1:c.887-1G>A (DNAAF3) | NP_001243645.1:n.887-1G>A | |
| NM_178837.4:c.1190-1G>A (DNAAF3) | NP_849159.2:n.1190-1G>A | |
| XR_001754014.1:n.87+569C>T (DNAAF3-AS1) | ||
| XR_001754015.1:n.107+569C>T (DNAAF3-AS1) | ||
| NM_001256715.2:c.1049-1G>A (DNAAF3) MANE Select | NP_001243644.1:n.1049-1G>A | |
| NM_001256716.2:c.887-1G>A (DNAAF3) | NP_001243645.1:n.887-1G>A |