Revel Score:
ENST00000435489
0.644
ENST00000311946 (MANE Select)
0.644
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471782C>T , CM000667.2:g.157471782C>T | GRCh38 |
| NC_000005.9:g.156898790C>T , CM000667.1:g.156898790C>T | GRCh37 |
| NC_000005.8:g.156831368C>T | NCBI36 |
| NG_016626.1:g.16764C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.551C>T (NIPAL4) MANE Select | ENSP00000311687.8:p.Thr184Ile | |
| ENST00000435489.7:c.494C>T (NIPAL4) | ENSP00000406456.3:p.Thr165Ile | |
| ENST00000311946.7:c.737C>T (NIPAL4) | ENSP00000311687.7:p.Thr246Ile | |
| ENST00000435489.6:c.680C>T (NIPAL4) | ENSP00000406456.2:p.Thr227Ile | |
| ENST00000517951.5:c.*1741+16483G>A (ADAM19) | ENSP00000428376.1:n.*1741+16483G>A | |
| ENST00000519150.1:c.649C>T (NIPAL4) | ENSP00000430810.1:n.649C>T | |
| NM_001099287.1:c.737C>T (NIPAL4) | NP_001092757.1:p.Thr246Ile | |
| NM_001172292.1:c.680C>T (NIPAL4) | NP_001165763.1:p.Thr227Ile | |
| XM_011534552.1:c.242C>T (NIPAL4) | XP_011532854.1:p.Thr81Ile | |
| XM_024446043.1:c.38C>T (NIPAL4) | XP_024301811.1:p.Thr13Ile | |
| NM_001099287.2:c.551C>T (NIPAL4) MANE Select | NP_001092757.2:p.Thr184Ile |