Linked Data
dbSNP Id:
rs779945588
ExAC:
15:55790082 A / G
gnomAD v2:
15-55790082-A-G
gnomAD v3:
15-55497884-A-G
gnomAD v4:
15-55497884-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.55497884A>G , CM000677.2:g.55497884A>G | GRCh38 |
| NC_000015.9:g.55790082A>G , CM000677.1:g.55790082A>G | GRCh37 |
| NC_000015.8:g.53577374A>G | NCBI36 |
| NG_021213.1:g.15351T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321149.7:c.124-25T>C (DNAAF4) MANE Select | ENSP00000323275.3:n.124-25T>C | |
| ENST00000348518.4:c.124-25T>C (DNAAF4) | ENSP00000299561.5:n.124-25T>C | |
| ENST00000448430.6:c.124-25T>C (DNAAF4) | ENSP00000403412.2:n.124-25T>C | |
| ENST00000457155.6:c.124-25T>C (DNAAF4) | ENSP00000402640.2:n.124-25T>C | |
| ENST00000519017.1:n.139-25T>C (DNAAF4) | ||
| ENST00000522437.1:c.124-74T>C (DNAAF4) | ENSP00000429219.1:n.124-74T>C | |
| ENST00000524160.5:c.124-25T>C (DNAAF4) | ENSP00000428097.1:n.124-25T>C | |
| NM_001033559.2:c.124-25T>C (DNAAF4) | NP_001028731.1:n.124-25T>C | |
| NM_001033560.1:c.124-25T>C (DNAAF4) | NP_001028732.1:n.124-25T>C | |
| NM_130810.3:c.124-25T>C (DNAAF4) | NP_570722.2:n.124-25T>C | |
| NR_037923.1:n.379-25T>C (DNAAF4-CCPG1) | ||
| NM_130810.4:c.124-25T>C (DNAAF4) MANE Select | NP_570722.2:n.124-25T>C | |
| NM_001033559.3:c.124-25T>C (DNAAF4) | NP_001028731.1:n.124-25T>C | |
| NM_001033560.2:c.124-25T>C (DNAAF4) | NP_001028732.1:n.124-25T>C |