Revel Score:
ENST00000435489
0.196
ENST00000311946 (MANE Select)
0.196
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471784A>G , CM000667.2:g.157471784A>G | GRCh38 |
| NC_000005.9:g.156898792A>G , CM000667.1:g.156898792A>G | GRCh37 |
| NC_000005.8:g.156831370A>G | NCBI36 |
| NG_016626.1:g.16766A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.553A>G (NIPAL4) MANE Select | ENSP00000311687.8:p.Ile185Val | |
| ENST00000435489.7:c.496A>G (NIPAL4) | ENSP00000406456.3:p.Ile166Val | |
| ENST00000311946.7:c.739A>G (NIPAL4) | ENSP00000311687.7:p.Ile247Val | |
| ENST00000435489.6:c.682A>G (NIPAL4) | ENSP00000406456.2:p.Ile228Val | |
| ENST00000517951.5:c.*1741+16481T>C (ADAM19) | ENSP00000428376.1:n.*1741+16481T>C | |
| ENST00000519150.1:c.651A>G (NIPAL4) | ENSP00000430810.1:n.651A>G | |
| NM_001099287.1:c.739A>G (NIPAL4) | NP_001092757.1:p.Ile247Val | |
| NM_001172292.1:c.682A>G (NIPAL4) | NP_001165763.1:p.Ile228Val | |
| XM_011534552.1:c.244A>G (NIPAL4) | XP_011532854.1:p.Ile82Val | |
| XM_024446043.1:c.40A>G (NIPAL4) | XP_024301811.1:p.Ile14Val | |
| NM_001099287.2:c.553A>G (NIPAL4) MANE Select | NP_001092757.2:p.Ile185Val |