Revel Score:
ENST00000435489
0.244
ENST00000311946 (MANE Select)
0.244
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010411 (EAS)
Exomes Max Group AF
0.0001005 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471689G>A , CM000667.2:g.157471689G>A | GRCh38 |
| NC_000005.9:g.156898697G>A , CM000667.1:g.156898697G>A | GRCh37 |
| NC_000005.8:g.156831275G>A | NCBI36 |
| NG_016626.1:g.16671G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.458G>A (NIPAL4) MANE Select | ENSP00000311687.8:p.Ser153Asn | |
| ENST00000435489.7:c.401G>A (NIPAL4) | ENSP00000406456.3:p.Ser134Asn | |
| ENST00000311946.7:c.644G>A (NIPAL4) | ENSP00000311687.7:p.Ser215Asn | |
| ENST00000435489.6:c.587G>A (NIPAL4) | ENSP00000406456.2:p.Ser196Asn | |
| ENST00000517951.5:c.*1741+16576C>T (ADAM19) | ENSP00000428376.1:n.*1741+16576C>T | |
| ENST00000519150.1:c.556G>A (NIPAL4) | ENSP00000430810.1:n.556G>A | |
| NM_001099287.1:c.644G>A (NIPAL4) | NP_001092757.1:p.Ser215Asn | |
| NM_001172292.1:c.587G>A (NIPAL4) | NP_001165763.1:p.Ser196Asn | |
| XM_011534552.1:c.149G>A (NIPAL4) | XP_011532854.1:p.Ser50Asn | |
| XM_024446043.1:c.-56G>A (NIPAL4) | XP_024301811.1:n.-56G>A | |
| NM_001099287.2:c.458G>A (NIPAL4) MANE Select | NP_001092757.2:p.Ser153Asn |