Linked Data
ClinVar Variation Id:
410289
dbSNP Id:
rs770143722
ExAC:
19:55672660 C / G
gnomAD v2:
19-55672660-C-G
gnomAD v4:
19-55161292-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55161292C>G , CM000681.2:g.55161292C>G | GRCh38 |
| NC_000019.9:g.55672660C>G , CM000681.1:g.55672660C>G | GRCh37 |
| NC_000019.8:g.60364472C>G | NCBI36 |
| NG_007866.2:g.1441G>C , LRG_432:g.1441G>C | |
| NG_032759.1:g.10431G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524407.7:c.789+1G>C (DNAAF3) MANE Select | ENSP00000432046.3:n.789+1G>C | |
| ENST00000391720.8:c.930+1G>C (DNAAF3) | ENSP00000375600.5:n.930+1G>C | |
| ENST00000455045.5:c.627+1G>C (DNAAF3) | ENSP00000394343.1:n.627+1G>C | |
| ENST00000524407.6:c.789+1G>C (DNAAF3) | ENSP00000432046.2:n.789+1G>C | |
| ENST00000526959.5:n.526+1G>C (DNAAF3) | ||
| ENST00000527223.6:c.993+1G>C (DNAAF3) | ENSP00000436975.2:n.993+1G>C | |
| ENST00000527292.5:n.319-105G>C (DNAAF3) | ||
| ENST00000528412.5:c.*577+1G>C (DNAAF3) | ENSP00000433826.2:n.*577+1G>C | |
| ENST00000533527.6:n.551+1G>C (DNAAF3) | ||
| NM_001256714.1:c.993+1G>C (DNAAF3) | NP_001243643.1:n.993+1G>C | |
| NM_001256715.1:c.789+1G>C (DNAAF3) | NP_001243644.1:n.789+1G>C | |
| NM_001256716.1:c.627+1G>C (DNAAF3) | NP_001243645.1:n.627+1G>C | |
| NM_178837.4:c.930+1G>C (DNAAF3) | NP_849159.2:n.930+1G>C | |
| XR_430261.2:n.150+78C>G (DNAAF3-AS1) | ||
| XR_936074.1:n.265+78C>G (DNAAF3-AS1) | ||
| XR_001754014.1:n.256+78C>G (DNAAF3-AS1) | ||
| XR_001754015.1:n.227+78C>G (DNAAF3-AS1) | ||
| XR_936074.2:n.269+78C>G (DNAAF3-AS1) | ||
| NM_001256715.2:c.789+1G>C (DNAAF3) MANE Select | NP_001243644.1:n.789+1G>C | |
| NM_001256716.2:c.627+1G>C (DNAAF3) | NP_001243645.1:n.627+1G>C |