Revel Score:
ENST00000435489
0.912
ENST00000311946 (MANE Select)
0.912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471703G>T , CM000667.2:g.157471703G>T | GRCh38 |
| NC_000005.9:g.156898711G>T , CM000667.1:g.156898711G>T | GRCh37 |
| NC_000005.8:g.156831289G>T | NCBI36 |
| NG_016626.1:g.16685G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.472G>T (NIPAL4) MANE Select | ENSP00000311687.8:p.Gly158Trp | |
| ENST00000435489.7:c.415G>T (NIPAL4) | ENSP00000406456.3:p.Gly139Trp | |
| ENST00000311946.7:c.658G>T (NIPAL4) | ENSP00000311687.7:p.Gly220Trp | |
| ENST00000435489.6:c.601G>T (NIPAL4) | ENSP00000406456.2:p.Gly201Trp | |
| ENST00000517951.5:c.*1741+16562C>A (ADAM19) | ENSP00000428376.1:n.*1741+16562C>A | |
| ENST00000519150.1:c.570G>T (NIPAL4) | ENSP00000430810.1:n.570G>T | |
| NM_001099287.1:c.658G>T (NIPAL4) | NP_001092757.1:p.Gly220Trp | |
| NM_001172292.1:c.601G>T (NIPAL4) | NP_001165763.1:p.Gly201Trp | |
| XM_011534552.1:c.163G>T (NIPAL4) | XP_011532854.1:p.Gly55Trp | |
| XM_024446043.1:c.-42G>T (NIPAL4) | XP_024301811.1:n.-42G>T | |
| NM_001099287.2:c.472G>T (NIPAL4) MANE Select | NP_001092757.2:p.Gly158Trp |