Revel Score:
ENST00000435489
0.556
ENST00000311946 (MANE Select)
0.556
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471677T>G , CM000667.2:g.157471677T>G | GRCh38 |
| NC_000005.9:g.156898685T>G , CM000667.1:g.156898685T>G | GRCh37 |
| NC_000005.8:g.156831263T>G | NCBI36 |
| NG_016626.1:g.16659T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.446T>G (NIPAL4) MANE Select | ENSP00000311687.8:p.Phe149Cys | |
| ENST00000435489.7:c.389T>G (NIPAL4) | ENSP00000406456.3:p.Phe130Cys | |
| ENST00000311946.7:c.632T>G (NIPAL4) | ENSP00000311687.7:p.Phe211Cys | |
| ENST00000435489.6:c.575T>G (NIPAL4) | ENSP00000406456.2:p.Phe192Cys | |
| ENST00000517951.5:c.*1741+16588A>C (ADAM19) | ENSP00000428376.1:n.*1741+16588A>C | |
| ENST00000519150.1:c.544T>G (NIPAL4) | ENSP00000430810.1:n.544T>G | |
| NM_001099287.1:c.632T>G (NIPAL4) | NP_001092757.1:p.Phe211Cys | |
| NM_001172292.1:c.575T>G (NIPAL4) | NP_001165763.1:p.Phe192Cys | |
| XM_011534552.1:c.137T>G (NIPAL4) | XP_011532854.1:p.Phe46Cys | |
| XM_024446043.1:c.-68T>G (NIPAL4) | XP_024301811.1:n.-68T>G | |
| NM_001099287.2:c.446T>G (NIPAL4) MANE Select | NP_001092757.2:p.Phe149Cys |