Linked Data
ClinVar Variation Id:
281896
dbSNP Id:
rs779990994
ExAC:
19:55670805 G / A
gnomAD v2:
19-55670805-G-A
gnomAD v3:
19-55159437-G-A
gnomAD v4:
19-55159437-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55159437G>A , CM000681.2:g.55159437G>A | GRCh38 |
| NC_000019.9:g.55670805G>A , CM000681.1:g.55670805G>A | GRCh37 |
| NC_000019.8:g.60362617G>A | NCBI36 |
| NG_007866.2:g.3296C>T , LRG_432:g.3296C>T | |
| NG_032759.1:g.12286C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524407.7:c.1251C>T (DNAAF3) MANE Select | ENSP00000432046.3:p.Asp417= | |
| ENST00000391720.8:c.1392C>T (DNAAF3) | ENSP00000375600.5:p.Asp464= | |
| ENST00000455045.5:c.1089C>T (DNAAF3) | ENSP00000394343.1:p.Asp363= | |
| ENST00000524407.6:c.1251C>T (DNAAF3) | ENSP00000432046.2:p.Asp417= | |
| ENST00000527223.6:c.1452C>T (DNAAF3) | ENSP00000436975.2:p.Asp484= | |
| ENST00000528412.5:c.*1039C>T (DNAAF3) | ENSP00000433826.2:n.*1039C>T | |
| ENST00000533527.6:n.1013C>T (DNAAF3) | ||
| ENST00000587789.2:n.336C>T (DNAAF3) | ||
| ENST00000587871.1:c.235C>T | ||
| ENST00000588076.1:c.250C>T (DNAAF3) | ||
| NM_001256714.1:c.1452C>T (DNAAF3) | NP_001243643.1:p.Asp484= | |
| NM_001256715.1:c.1251C>T (DNAAF3) | NP_001243644.1:p.Asp417= | |
| NM_001256716.1:c.1089C>T (DNAAF3) | NP_001243645.1:p.Asp363= | |
| NM_178837.4:c.1392C>T (DNAAF3) | NP_849159.2:p.Asp464= | |
| XR_001754014.1:n.79G>A (DNAAF3-AS1) | ||
| XR_001754015.1:n.99G>A (DNAAF3-AS1) | ||
| NM_001256715.2:c.1251C>T (DNAAF3) MANE Select | NP_001243644.1:p.Asp417= | |
| NM_001256716.2:c.1089C>T (DNAAF3) | NP_001243645.1:p.Asp363= |