Linked Data
ClinVar Variation Id:
31533
dbSNP Id:
rs387907152
gnomAD v3:
19-55165427-G-A
gnomAD v4:
19-55165427-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55165427G>A , CM000681.2:g.55165427G>A | GRCh38 |
| NC_000019.9:g.55676795G>A , CM000681.1:g.55676795G>A | GRCh37 |
| NC_000019.8:g.60368607G>A | NCBI36 |
| NG_032759.1:g.6296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524407.7:c.265C>T (DNAAF3) MANE Select | ENSP00000432046.3:p.Arg89Ter | |
| ENST00000391720.8:c.406C>T (DNAAF3) | ENSP00000375600.5:p.Arg136Ter | |
| ENST00000455045.5:c.103C>T (DNAAF3) | ENSP00000394343.1:p.Arg35Ter | |
| ENST00000524407.6:c.265C>T (DNAAF3) | ENSP00000432046.2:p.Arg89Ter | |
| ENST00000526003.5:c.265C>T (DNAAF3) | ENSP00000473009.1:p.Arg89Ter | |
| ENST00000527223.6:c.469C>T (DNAAF3) | ENSP00000436975.2:p.Arg157Ter | |
| ENST00000528412.5:c.*53C>T (DNAAF3) | ENSP00000433826.2:n.*53C>T | |
| ENST00000532817.5:c.211C>T (DNAAF3) | ENSP00000432838.2:p.Arg71Ter | |
| ENST00000534170.5:c.211C>T (DNAAF3) | ENSP00000432360.2:p.Arg71Ter | |
| ENST00000534214.1:c.*53C>T (DNAAF3) | ENSP00000433247.2:n.*53C>T | |
| NM_001256714.1:c.469C>T (DNAAF3) | NP_001243643.1:p.Arg157Ter | |
| NM_001256715.1:c.265C>T (DNAAF3) | NP_001243644.1:p.Arg89Ter | |
| NM_001256716.1:c.103C>T (DNAAF3) | NP_001243645.1:p.Arg35Ter | |
| NM_178837.4:c.406C>T (DNAAF3) | NP_849159.2:p.Arg136Ter | |
| XR_430261.2:n.201-392G>A (DNAAF3-AS1) | ||
| NM_001256715.2:c.265C>T (DNAAF3) MANE Select | NP_001243644.1:p.Arg89Ter | |
| NM_001256716.2:c.103C>T (DNAAF3) | NP_001243645.1:p.Arg35Ter |