gnomAD v4:
Revel Score:
ENST00000435489
0.834
ENST00000311946 (MANE Select)
0.834
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471679C>A , CM000667.2:g.157471679C>A | GRCh38 |
| NC_000005.9:g.156898687C>A , CM000667.1:g.156898687C>A | GRCh37 |
| NC_000005.8:g.156831265C>A | NCBI36 |
| NG_016626.1:g.16661C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.448C>A (NIPAL4) MANE Select | ENSP00000311687.8:p.Leu150Met | |
| ENST00000435489.7:c.391C>A (NIPAL4) | ENSP00000406456.3:p.Leu131Met | |
| ENST00000311946.7:c.634C>A (NIPAL4) | ENSP00000311687.7:p.Leu212Met | |
| ENST00000435489.6:c.577C>A (NIPAL4) | ENSP00000406456.2:p.Leu193Met | |
| ENST00000517951.5:c.*1741+16586G>T (ADAM19) | ENSP00000428376.1:n.*1741+16586G>T | |
| ENST00000519150.1:c.546C>A (NIPAL4) | ENSP00000430810.1:n.546C>A | |
| NM_001099287.1:c.634C>A (NIPAL4) | NP_001092757.1:p.Leu212Met | |
| NM_001172292.1:c.577C>A (NIPAL4) | NP_001165763.1:p.Leu193Met | |
| XM_011534552.1:c.139C>A (NIPAL4) | XP_011532854.1:p.Leu47Met | |
| XM_024446043.1:c.-66C>A (NIPAL4) | XP_024301811.1:n.-66C>A | |
| NM_001099287.2:c.448C>A (NIPAL4) MANE Select | NP_001092757.2:p.Leu150Met |