Revel Score:
ENST00000435489
0.702
ENST00000311946 (MANE Select)
0.702
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471796G>C , CM000667.2:g.157471796G>C | GRCh38 |
| NC_000005.9:g.156898804G>C , CM000667.1:g.156898804G>C | GRCh37 |
| NC_000005.8:g.156831382G>C | NCBI36 |
| NG_016626.1:g.16778G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.565G>C (NIPAL4) MANE Select | ENSP00000311687.8:p.Ala189Pro | |
| ENST00000435489.7:c.508G>C (NIPAL4) | ENSP00000406456.3:p.Ala170Pro | |
| ENST00000311946.7:c.751G>C (NIPAL4) | ENSP00000311687.7:p.Ala251Pro | |
| ENST00000435489.6:c.694G>C (NIPAL4) | ENSP00000406456.2:p.Ala232Pro | |
| ENST00000517951.5:c.*1741+16469C>G (ADAM19) | ENSP00000428376.1:n.*1741+16469C>G | |
| ENST00000519150.1:c.663G>C (NIPAL4) | ENSP00000430810.1:n.663G>C | |
| NM_001099287.1:c.751G>C (NIPAL4) | NP_001092757.1:p.Ala251Pro | |
| NM_001172292.1:c.694G>C (NIPAL4) | NP_001165763.1:p.Ala232Pro | |
| XM_011534552.1:c.256G>C (NIPAL4) | XP_011532854.1:p.Ala86Pro | |
| XM_024446043.1:c.52G>C (NIPAL4) | XP_024301811.1:p.Ala18Pro | |
| NM_001099287.2:c.565G>C (NIPAL4) MANE Select | NP_001092757.2:p.Ala189Pro |