Revel Score:
ENST00000435489
0.157
ENST00000311946 (MANE Select)
0.157
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471683G>C , CM000667.2:g.157471683G>C | GRCh38 |
| NC_000005.9:g.156898691G>C , CM000667.1:g.156898691G>C | GRCh37 |
| NC_000005.8:g.156831269G>C | NCBI36 |
| NG_016626.1:g.16665G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.452G>C (NIPAL4) MANE Select | ENSP00000311687.8:p.Arg151Thr | |
| ENST00000435489.7:c.395G>C (NIPAL4) | ENSP00000406456.3:p.Arg132Thr | |
| ENST00000311946.7:c.638G>C (NIPAL4) | ENSP00000311687.7:p.Arg213Thr | |
| ENST00000435489.6:c.581G>C (NIPAL4) | ENSP00000406456.2:p.Arg194Thr | |
| ENST00000517951.5:c.*1741+16582C>G (ADAM19) | ENSP00000428376.1:n.*1741+16582C>G | |
| ENST00000519150.1:c.550G>C (NIPAL4) | ENSP00000430810.1:n.550G>C | |
| NM_001099287.1:c.638G>C (NIPAL4) | NP_001092757.1:p.Arg213Thr | |
| NM_001172292.1:c.581G>C (NIPAL4) | NP_001165763.1:p.Arg194Thr | |
| XM_011534552.1:c.143G>C (NIPAL4) | XP_011532854.1:p.Arg48Thr | |
| XM_024446043.1:c.-62G>C (NIPAL4) | XP_024301811.1:n.-62G>C | |
| NM_001099287.2:c.452G>C (NIPAL4) MANE Select | NP_001092757.2:p.Arg151Thr |