Linked Data
dbSNP Id:
rs371755190
ExAC:
5:156890275 G / A
gnomAD v2:
5-156890275-G-A
gnomAD v3:
5-157463267-G-A
gnomAD v4:
5-157463267-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157463267G>A , CM000667.2:g.157463267G>A | GRCh38 |
| NC_000005.9:g.156890275G>A , CM000667.1:g.156890275G>A | GRCh37 |
| NC_000005.8:g.156822853G>A | NCBI36 |
| NG_016626.1:g.8249G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.211G>A (NIPAL4) MANE Select | ENSP00000311687.8:p.Gly71Ser | |
| ENST00000435489.7:c.211G>A (NIPAL4) | ENSP00000406456.3:p.Gly71Ser | |
| ENST00000311946.7:c.397G>A (NIPAL4) | ENSP00000311687.7:p.Gly133Ser | |
| ENST00000435489.6:c.397G>A (NIPAL4) | ENSP00000406456.2:p.Gly133Ser | |
| ENST00000517951.5:c.*1741+24998C>T (ADAM19) | ENSP00000428376.1:n.*1741+24998C>T | |
| ENST00000519150.1:c.309G>A (NIPAL4) | ENSP00000430810.1:p.Ser103= | |
| ENST00000519946.1:n.425G>A (NIPAL4) | ||
| ENST00000521390.5:n.316G>A (NIPAL4) | ||
| NM_001099287.1:c.397G>A (NIPAL4) | NP_001092757.1:p.Gly133Ser | |
| NM_001172292.1:c.397G>A (NIPAL4) | NP_001165763.1:p.Gly133Ser | |
| XM_011534552.1:c.-99G>A (NIPAL4) | XP_011532854.1:n.-99G>A | |
| XM_024446043.1:c.-246G>A (NIPAL4) | XP_024301811.1:n.-246G>A | |
| NM_001099287.2:c.211G>A (NIPAL4) MANE Select | NP_001092757.2:p.Gly71Ser |