Revel Score:
ENST00000435489
0.660
ENST00000311946 (MANE Select)
0.660
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471790G>A , CM000667.2:g.157471790G>A | GRCh38 |
| NC_000005.9:g.156898798G>A , CM000667.1:g.156898798G>A | GRCh37 |
| NC_000005.8:g.156831376G>A | NCBI36 |
| NG_016626.1:g.16772G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.559G>A (NIPAL4) MANE Select | ENSP00000311687.8:p.Glu187Lys | |
| ENST00000435489.7:c.502G>A (NIPAL4) | ENSP00000406456.3:p.Glu168Lys | |
| ENST00000311946.7:c.745G>A (NIPAL4) | ENSP00000311687.7:p.Glu249Lys | |
| ENST00000435489.6:c.688G>A (NIPAL4) | ENSP00000406456.2:p.Glu230Lys | |
| ENST00000517951.5:c.*1741+16475C>T (ADAM19) | ENSP00000428376.1:n.*1741+16475C>T | |
| ENST00000519150.1:c.657G>A (NIPAL4) | ENSP00000430810.1:n.657G>A | |
| NM_001099287.1:c.745G>A (NIPAL4) | NP_001092757.1:p.Glu249Lys | |
| NM_001172292.1:c.688G>A (NIPAL4) | NP_001165763.1:p.Glu230Lys | |
| XM_011534552.1:c.250G>A (NIPAL4) | XP_011532854.1:p.Glu84Lys | |
| XM_024446043.1:c.46G>A (NIPAL4) | XP_024301811.1:p.Glu16Lys | |
| NM_001099287.2:c.559G>A (NIPAL4) MANE Select | NP_001092757.2:p.Glu187Lys |