Linked Data
ClinVar Variation Id:
410287
ClinVar RCV Id:
RCV000462954
dbSNP Id:
rs757536895
ExAC:
19:55672695 T / C
gnomAD v2:
19-55672695-T-C
gnomAD v3:
19-55161327-T-C
gnomAD v4:
19-55161327-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55161327T>C , CM000681.2:g.55161327T>C | GRCh38 |
| NC_000019.9:g.55672695T>C , CM000681.1:g.55672695T>C | GRCh37 |
| NC_000019.8:g.60364507T>C | NCBI36 |
| NG_007866.2:g.1406A>G , LRG_432:g.1406A>G | |
| NG_032759.1:g.10396A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524407.7:c.755A>G (DNAAF3) MANE Select | ENSP00000432046.3:p.Asn252Ser | |
| ENST00000391720.8:c.896A>G (DNAAF3) | ENSP00000375600.5:p.Asn299Ser | |
| ENST00000455045.5:c.593A>G (DNAAF3) | ENSP00000394343.1:p.Asn198Ser | |
| ENST00000524407.6:c.755A>G (DNAAF3) | ENSP00000432046.2:p.Asn252Ser | |
| ENST00000526959.5:n.492A>G (DNAAF3) | ||
| ENST00000527223.6:c.959A>G (DNAAF3) | ENSP00000436975.2:p.Asn320Ser | |
| ENST00000527292.5:n.319-140A>G (DNAAF3) | ||
| ENST00000528412.5:c.*543A>G (DNAAF3) | ENSP00000433826.2:n.*543A>G | |
| ENST00000533527.6:n.517A>G (DNAAF3) | ||
| NM_001256714.1:c.959A>G (DNAAF3) | NP_001243643.1:p.Asn320Ser | |
| NM_001256715.1:c.755A>G (DNAAF3) | NP_001243644.1:p.Asn252Ser | |
| NM_001256716.1:c.593A>G (DNAAF3) | NP_001243645.1:p.Asn198Ser | |
| NM_178837.4:c.896A>G (DNAAF3) | NP_849159.2:p.Asn299Ser | |
| XR_430261.2:n.150+113T>C (DNAAF3-AS1) | ||
| XR_936074.1:n.265+113T>C (DNAAF3-AS1) | ||
| XR_001754014.1:n.256+113T>C (DNAAF3-AS1) | ||
| XR_001754015.1:n.227+113T>C (DNAAF3-AS1) | ||
| XR_936074.2:n.269+113T>C (DNAAF3-AS1) | ||
| NM_001256715.2:c.755A>G (DNAAF3) MANE Select | NP_001243644.1:p.Asn252Ser | |
| NM_001256716.2:c.593A>G (DNAAF3) | NP_001243645.1:p.Asn198Ser |