Linked Data
ClinVar Variation Id:
241832
ClinVar RCV Id:
RCV000225799
dbSNP Id:
rs57914590
ExAC:
15:55783342 G / A
gnomAD v2:
15-55783342-G-A
gnomAD v3:
15-55491144-G-A
gnomAD v4:
15-55491144-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.55491144G>A , CM000677.2:g.55491144G>A | GRCh38 |
| NC_000015.9:g.55783342G>A , CM000677.1:g.55783342G>A | GRCh37 |
| NC_000015.8:g.53570634G>A | NCBI36 |
| NG_021213.1:g.22091C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321149.7:c.384C>T (DNAAF4) MANE Select | ENSP00000323275.3:p.Tyr128= | |
| ENST00000348518.4:c.384C>T (DNAAF4) | ENSP00000299561.5:p.Tyr128= | |
| ENST00000448430.6:c.384C>T (DNAAF4) | ENSP00000403412.2:p.Tyr128= | |
| ENST00000457155.6:c.384C>T (DNAAF4) | ENSP00000402640.2:p.Tyr128= | |
| ENST00000519017.1:n.399C>T (DNAAF4) | ||
| ENST00000522437.1:c.*194C>T (DNAAF4) | ENSP00000429219.1:n.*194C>T | |
| ENST00000524160.5:c.384C>T (DNAAF4) | ENSP00000428097.1:p.Tyr128= | |
| NM_001033559.2:c.384C>T (DNAAF4) | NP_001028731.1:p.Tyr128= | |
| NM_001033560.1:c.384C>T (DNAAF4) | NP_001028732.1:p.Tyr128= | |
| NM_130810.3:c.384C>T (DNAAF4) | NP_570722.2:p.Tyr128= | |
| NR_037923.1:n.639C>T (DNAAF4-CCPG1) | ||
| NM_130810.4:c.384C>T (DNAAF4) MANE Select | NP_570722.2:p.Tyr128= | |
| NM_001033559.3:c.384C>T (DNAAF4) | NP_001028731.1:p.Tyr128= | |
| NM_001033560.2:c.384C>T (DNAAF4) | NP_001028732.1:p.Tyr128= |