Linked Data
dbSNP Id:
rs1754159982
gnomAD v3:
5-157463269-C-G
gnomAD v4:
5-157463269-C-G
MyVariant Identifiers:
chr5:g.156890277C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157463269C>G , CM000667.2:g.157463269C>G | GRCh38 |
| NC_000005.9:g.156890277C>G , CM000667.1:g.156890277C>G | GRCh37 |
| NC_000005.8:g.156822855C>G | NCBI36 |
| NG_016626.1:g.8251C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.213C>G (NIPAL4) MANE Select | ENSP00000311687.8:p.Gly71= | |
| ENST00000435489.7:c.213C>G (NIPAL4) | ENSP00000406456.3:p.Gly71= | |
| ENST00000311946.7:c.399C>G (NIPAL4) | ENSP00000311687.7:p.Gly133= | |
| ENST00000435489.6:c.399C>G (NIPAL4) | ENSP00000406456.2:p.Gly133= | |
| ENST00000517951.5:c.*1741+24996G>C (ADAM19) | ENSP00000428376.1:n.*1741+24996G>C | |
| ENST00000519150.1:c.311C>G (NIPAL4) | ENSP00000430810.1:p.Ala104Gly | |
| ENST00000519946.1:n.427C>G (NIPAL4) | ||
| ENST00000521390.5:n.318C>G (NIPAL4) | ||
| NM_001099287.1:c.399C>G (NIPAL4) | NP_001092757.1:p.Gly133= | |
| NM_001172292.1:c.399C>G (NIPAL4) | NP_001165763.1:p.Gly133= | |
| XM_011534552.1:c.-97C>G (NIPAL4) | XP_011532854.1:n.-97C>G | |
| XM_024446043.1:c.-244C>G (NIPAL4) | XP_024301811.1:n.-244C>G | |
| NM_001099287.2:c.213C>G (NIPAL4) MANE Select | NP_001092757.2:p.Gly71= |