Revel Score:
ENST00000435489
0.834
ENST00000311946 (MANE Select)
0.834
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471776T>A , CM000667.2:g.157471776T>A | GRCh38 |
| NC_000005.9:g.156898784T>A , CM000667.1:g.156898784T>A | GRCh37 |
| NC_000005.8:g.156831362T>A | NCBI36 |
| NG_016626.1:g.16758T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.545T>A (NIPAL4) MANE Select | ENSP00000311687.8:p.Val182Asp | |
| ENST00000435489.7:c.488T>A (NIPAL4) | ENSP00000406456.3:p.Val163Asp | |
| ENST00000311946.7:c.731T>A (NIPAL4) | ENSP00000311687.7:p.Val244Asp | |
| ENST00000435489.6:c.674T>A (NIPAL4) | ENSP00000406456.2:p.Val225Asp | |
| ENST00000517951.5:c.*1741+16489A>T (ADAM19) | ENSP00000428376.1:n.*1741+16489A>T | |
| ENST00000519150.1:c.643T>A (NIPAL4) | ENSP00000430810.1:n.643T>A | |
| NM_001099287.1:c.731T>A (NIPAL4) | NP_001092757.1:p.Val244Asp | |
| NM_001172292.1:c.674T>A (NIPAL4) | NP_001165763.1:p.Val225Asp | |
| XM_011534552.1:c.236T>A (NIPAL4) | XP_011532854.1:p.Val79Asp | |
| XM_024446043.1:c.32T>A (NIPAL4) | XP_024301811.1:p.Val11Asp | |
| NM_001099287.2:c.545T>A (NIPAL4) MANE Select | NP_001092757.2:p.Val182Asp |