Linked Data
dbSNP Id:
rs750814401
ExAC:
15:55783341 C / A
gnomAD v2:
15-55783341-C-A
gnomAD v3:
15-55491143-C-A
gnomAD v4:
15-55491143-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.55491143C>A , CM000677.2:g.55491143C>A | GRCh38 |
| NC_000015.9:g.55783341C>A , CM000677.1:g.55783341C>A | GRCh37 |
| NC_000015.8:g.53570633C>A | NCBI36 |
| NG_021213.1:g.22092G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321149.7:c.385G>T (DNAAF4) MANE Select | ENSP00000323275.3:p.Ala129Ser | |
| ENST00000348518.4:c.385G>T (DNAAF4) | ENSP00000299561.5:p.Ala129Ser | |
| ENST00000448430.6:c.385G>T (DNAAF4) | ENSP00000403412.2:p.Ala129Ser | |
| ENST00000457155.6:c.385G>T (DNAAF4) | ENSP00000402640.2:p.Ala129Ser | |
| ENST00000519017.1:n.400G>T (DNAAF4) | ||
| ENST00000522437.1:c.*195G>T (DNAAF4) | ENSP00000429219.1:n.*195G>T | |
| ENST00000524160.5:c.385G>T (DNAAF4) | ENSP00000428097.1:p.Ala129Ser | |
| NM_001033559.2:c.385G>T (DNAAF4) | NP_001028731.1:p.Ala129Ser | |
| NM_001033560.1:c.385G>T (DNAAF4) | NP_001028732.1:p.Ala129Ser | |
| NM_130810.3:c.385G>T (DNAAF4) | NP_570722.2:p.Ala129Ser | |
| NR_037923.1:n.640G>T (DNAAF4-CCPG1) | ||
| NM_130810.4:c.385G>T (DNAAF4) MANE Select | NP_570722.2:p.Ala129Ser | |
| NM_001033559.3:c.385G>T (DNAAF4) | NP_001028731.1:p.Ala129Ser | |
| NM_001033560.2:c.385G>T (DNAAF4) | NP_001028732.1:p.Ala129Ser |