Revel Score:
ENST00000435489
0.930
ENST00000311946 (MANE Select)
0.930
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471686A>C , CM000667.2:g.157471686A>C | GRCh38 |
| NC_000005.9:g.156898694A>C , CM000667.1:g.156898694A>C | GRCh37 |
| NC_000005.8:g.156831272A>C | NCBI36 |
| NG_016626.1:g.16668A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.455A>C (NIPAL4) MANE Select | ENSP00000311687.8:p.Glu152Ala | |
| ENST00000435489.7:c.398A>C (NIPAL4) | ENSP00000406456.3:p.Glu133Ala | |
| ENST00000311946.7:c.641A>C (NIPAL4) | ENSP00000311687.7:p.Glu214Ala | |
| ENST00000435489.6:c.584A>C (NIPAL4) | ENSP00000406456.2:p.Glu195Ala | |
| ENST00000517951.5:c.*1741+16579T>G (ADAM19) | ENSP00000428376.1:n.*1741+16579T>G | |
| ENST00000519150.1:c.553A>C (NIPAL4) | ENSP00000430810.1:n.553A>C | |
| NM_001099287.1:c.641A>C (NIPAL4) | NP_001092757.1:p.Glu214Ala | |
| NM_001172292.1:c.584A>C (NIPAL4) | NP_001165763.1:p.Glu195Ala | |
| XM_011534552.1:c.146A>C (NIPAL4) | XP_011532854.1:p.Glu49Ala | |
| XM_024446043.1:c.-59A>C (NIPAL4) | XP_024301811.1:n.-59A>C | |
| NM_001099287.2:c.455A>C (NIPAL4) MANE Select | NP_001092757.2:p.Glu152Ala |