Revel Score:
ENST00000435489
0.675
ENST00000311946 (MANE Select)
0.675
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471791A>C , CM000667.2:g.157471791A>C | GRCh38 |
| NC_000005.9:g.156898799A>C , CM000667.1:g.156898799A>C | GRCh37 |
| NC_000005.8:g.156831377A>C | NCBI36 |
| NG_016626.1:g.16773A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.560A>C (NIPAL4) MANE Select | ENSP00000311687.8:p.Glu187Ala | |
| ENST00000435489.7:c.503A>C (NIPAL4) | ENSP00000406456.3:p.Glu168Ala | |
| ENST00000311946.7:c.746A>C (NIPAL4) | ENSP00000311687.7:p.Glu249Ala | |
| ENST00000435489.6:c.689A>C (NIPAL4) | ENSP00000406456.2:p.Glu230Ala | |
| ENST00000517951.5:c.*1741+16474T>G (ADAM19) | ENSP00000428376.1:n.*1741+16474T>G | |
| ENST00000519150.1:c.658A>C (NIPAL4) | ENSP00000430810.1:n.658A>C | |
| NM_001099287.1:c.746A>C (NIPAL4) | NP_001092757.1:p.Glu249Ala | |
| NM_001172292.1:c.689A>C (NIPAL4) | NP_001165763.1:p.Glu230Ala | |
| XM_011534552.1:c.251A>C (NIPAL4) | XP_011532854.1:p.Glu84Ala | |
| XM_024446043.1:c.47A>C (NIPAL4) | XP_024301811.1:p.Glu16Ala | |
| NM_001099287.2:c.560A>C (NIPAL4) MANE Select | NP_001092757.2:p.Glu187Ala |