Linked Data
ClinVar Variation Id:
410292
ClinVar RCV Id:
RCV000472407
dbSNP Id:
rs372166228
ExAC:
19:55677221 C / G
gnomAD v2:
19-55677221-C-G
gnomAD v3:
19-55165853-C-G
gnomAD v4:
19-55165853-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55165853C>G , CM000681.2:g.55165853C>G | GRCh38 |
| NC_000019.9:g.55677221C>G , CM000681.1:g.55677221C>G | GRCh37 |
| NC_000019.8:g.60369033C>G | NCBI36 |
| NG_032759.1:g.5870G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524407.7:c.228+5G>C (DNAAF3) MANE Select | ENSP00000432046.3:n.228+5G>C | |
| ENST00000391720.8:c.369+5G>C (DNAAF3) | ENSP00000375600.5:n.369+5G>C | |
| ENST00000455045.5:c.-6G>C (DNAAF3) | ENSP00000394343.1:n.-6G>C | |
| ENST00000524407.6:c.228+5G>C (DNAAF3) | ENSP00000432046.2:n.228+5G>C | |
| ENST00000526003.5:c.228+5G>C (DNAAF3) | ENSP00000473009.1:n.228+5G>C | |
| ENST00000527223.6:c.432+5G>C (DNAAF3) | ENSP00000436975.2:n.432+5G>C | |
| ENST00000528412.5:c.233G>C (DNAAF3) | ENSP00000433826.2:p.Ser78Thr | |
| ENST00000528476.1:n.511G>C (DNAAF3) | ||
| ENST00000532817.5:c.174+5G>C (DNAAF3) | ENSP00000432838.2:n.174+5G>C | |
| ENST00000534170.5:c.174+5G>C (DNAAF3) | ENSP00000432360.2:n.174+5G>C | |
| ENST00000534214.1:c.233G>C (DNAAF3) | ENSP00000433247.2:p.Ser78Thr | |
| NM_001256714.1:c.432+5G>C (DNAAF3) | NP_001243643.1:n.432+5G>C | |
| NM_001256715.1:c.228+5G>C (DNAAF3) | NP_001243644.1:n.228+5G>C | |
| NM_001256716.1:c.-6G>C (DNAAF3) | NP_001243645.1:n.-6G>C | |
| NM_178837.4:c.369+5G>C (DNAAF3) | NP_849159.2:n.369+5G>C | |
| XR_430261.2:n.235C>G (DNAAF3-AS1) | ||
| NM_001256715.2:c.228+5G>C (DNAAF3) MANE Select | NP_001243644.1:n.228+5G>C | |
| NM_001256716.2:c.-6G>C (DNAAF3) | NP_001243645.1:n.-6G>C |