ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
0.00001457 (NFE)
Exomes Max Group AF
0.00001547 (NFE)
MyVariant.info:
GRCh37
chr5:g.156898692G>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471684G>A , CM000667.2:g.157471684G>A | GRCh38 |
| NC_000005.9:g.156898692G>A , CM000667.1:g.156898692G>A | GRCh37 |
| NC_000005.8:g.156831270G>A | NCBI36 |
| NG_016626.1:g.16666G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.453G>A (NIPAL4) MANE Select | ENSP00000311687.8:p.Arg151= | |
| ENST00000435489.7:c.396G>A (NIPAL4) | ENSP00000406456.3:p.Arg132= | |
| ENST00000311946.7:c.639G>A (NIPAL4) | ENSP00000311687.7:p.Arg213= | |
| ENST00000435489.6:c.582G>A (NIPAL4) | ENSP00000406456.2:p.Arg194= | |
| ENST00000517951.5:c.*1741+16581C>T (ADAM19) | ENSP00000428376.1:n.*1741+16581C>T | |
| ENST00000519150.1:c.551G>A (NIPAL4) | ENSP00000430810.1:n.551G>A | |
| NM_001099287.1:c.639G>A (NIPAL4) | NP_001092757.1:p.Arg213= | |
| NM_001172292.1:c.582G>A (NIPAL4) | NP_001165763.1:p.Arg194= | |
| XM_011534552.1:c.144G>A (NIPAL4) | XP_011532854.1:p.Arg48= | |
| XM_024446043.1:c.-61G>A (NIPAL4) | XP_024301811.1:n.-61G>A | |
| NM_001099287.2:c.453G>A (NIPAL4) MANE Select | NP_001092757.2:p.Arg151= |