Revel Score:
ENST00000254337 (MANE Select)
0.059
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001848 (NFE)
Genomes Max Group AF
0.00001988 (NFE)
Exomes Max Group AF
0.00001641 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13952580C>G , CM000681.2:g.13952580C>G | GRCh38 |
| NC_000019.9:g.14063392C>G , CM000681.1:g.14063392C>G | GRCh37 |
| NC_000019.8:g.13924392C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254337.11:c.68C>G (DCAF15) MANE Select | ENSP00000254337.5:p.Ala23Gly | |
| ENST00000254337.10:c.68C>G (DCAF15) | ENSP00000254337.5:p.Ala23Gly | |
| ENST00000538371.6:c.18+539G>C (PODNL1) | ENSP00000442553.1:n.18+539G>C | |
| ENST00000538517.6:c.18+539G>C (PODNL1) | ENSP00000440080.1:n.18+539G>C | |
| ENST00000585607.1:c.18+539G>C (PODNL1) | ENSP00000466659.1:n.18+539G>C | |
| ENST00000587458.1:c.-277+615G>C (PODNL1) | ENSP00000467495.1:n.-277+615G>C | |
| ENST00000588317.1:n.159+539G>C (PODNL1) | ||
| ENST00000591802.1:c.65C>G (DCAF15) | ENSP00000466932.1:p.Ala22Gly | |
| NM_001146254.1:c.18+539G>C (PODNL1) | NP_001139726.1:n.18+539G>C | |
| NM_001146255.1:c.18+539G>C (PODNL1) | NP_001139727.1:n.18+539G>C | |
| NM_138353.2:c.68C>G (DCAF15) | NP_612362.2:p.Ala23Gly | |
| XM_011528308.1:c.18+539G>C (PODNL1) | XP_011526610.1:n.18+539G>C | |
| XM_011528313.1:c.-158+539G>C (PODNL1) | XP_011526615.1:n.-158+539G>C | |
| XM_011528316.1:c.-158+539G>C (PODNL1) | XP_011526618.1:n.-158+539G>C | |
| NM_138353.3:c.68C>G (DCAF15) | NP_612362.2:p.Ala23Gly | |
| XM_017027313.1:c.-158+539G>C (PODNL1) | XP_016882802.1:n.-158+539G>C | |
| NM_001146254.2:c.18+539G>C (PODNL1) | NP_001139726.1:n.18+539G>C | |
| NM_001146255.2:c.18+539G>C (PODNL1) | NP_001139727.1:n.18+539G>C | |
| NM_001393637.1:c.68C>G (DCAF15) | NP_001380566.1:p.Ala23Gly | |
| NM_001393638.1:c.68C>G (DCAF15) | NP_001380567.1:p.Ala23Gly | |
| NM_001393639.1:c.68C>G (DCAF15) | NP_001380568.1:p.Ala23Gly | |
| NM_001393640.1:c.68C>G (DCAF15) | NP_001380569.1:p.Ala23Gly | |
| NM_001393641.1:c.68C>G (DCAF15) | NP_001380570.1:p.Ala23Gly | |
| NM_001393642.1:c.68C>G (DCAF15) | NP_001380571.1:p.Ala23Gly | |
| NM_001393643.1:c.68C>G (DCAF15) | NP_001380572.1:p.Ala23Gly | |
| NM_001393644.1:c.68C>G (DCAF15) | NP_001380573.1:p.Ala23Gly | |
| NM_138353.4:c.68C>G (DCAF15) MANE Select | NP_612362.2:p.Ala23Gly |