Revel Score:
ENST00000435489
0.328
ENST00000311946 (MANE Select)
0.328
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471788T>A , CM000667.2:g.157471788T>A | GRCh38 |
| NC_000005.9:g.156898796T>A , CM000667.1:g.156898796T>A | GRCh37 |
| NC_000005.8:g.156831374T>A | NCBI36 |
| NG_016626.1:g.16770T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.557T>A (NIPAL4) MANE Select | ENSP00000311687.8:p.Met186Lys | |
| ENST00000435489.7:c.500T>A (NIPAL4) | ENSP00000406456.3:p.Met167Lys | |
| ENST00000311946.7:c.743T>A (NIPAL4) | ENSP00000311687.7:p.Met248Lys | |
| ENST00000435489.6:c.686T>A (NIPAL4) | ENSP00000406456.2:p.Met229Lys | |
| ENST00000517951.5:c.*1741+16477A>T (ADAM19) | ENSP00000428376.1:n.*1741+16477A>T | |
| ENST00000519150.1:c.655T>A (NIPAL4) | ENSP00000430810.1:n.655T>A | |
| NM_001099287.1:c.743T>A (NIPAL4) | NP_001092757.1:p.Met248Lys | |
| NM_001172292.1:c.686T>A (NIPAL4) | NP_001165763.1:p.Met229Lys | |
| XM_011534552.1:c.248T>A (NIPAL4) | XP_011532854.1:p.Met83Lys | |
| XM_024446043.1:c.44T>A (NIPAL4) | XP_024301811.1:p.Met15Lys | |
| NM_001099287.2:c.557T>A (NIPAL4) MANE Select | NP_001092757.2:p.Met186Lys |