gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72642116 (NFE)
Genomes Max Group AF
0.72642116 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.30169582G>A , CM000670.2:g.30169582G>A | GRCh38 |
| NC_000008.10:g.30027098G>A , CM000670.1:g.30027098G>A | GRCh37 |
| NC_000008.9:g.30146640G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221114.8:c.88+5407G>A (DCTN6) MANE Select | ENSP00000221114.3:n.88+5407G>A | |
| ENST00000221114.7:c.88+5407G>A (DCTN6) | ENSP00000221114.3:n.88+5407G>A | |
| ENST00000519830.1:c.*160+3681G>A (DCTN6) | ENSP00000429408.1:n.*160+3681G>A | |
| ENST00000520739.5:c.*23+5407G>A (LEPROTL1) | ENSP00000429398.1:n.*23+5407G>A | |
| ENST00000520829.5:c.88+5407G>A (DCTN6) | ENSP00000431017.1:n.88+5407G>A | |
| ENST00000522141.5:c.88+5407G>A (DCTN6) | ENSP00000430109.1:n.88+5407G>A | |
| ENST00000522540.5:n.103+5407G>A (DCTN6) | ||
| ENST00000523666.5:c.88+5407G>A (DCTN6) | ENSP00000427955.1:n.88+5407G>A | |
| NM_006571.3:c.88+5407G>A (DCTN6) | NP_006562.1:n.88+5407G>A | |
| NM_006571.4:c.88+5407G>A (DCTN6) MANE Select | NP_006562.1:n.88+5407G>A |