Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11846009T>C , CM000663.2:g.11846009T>C | GRCh38 |
| NC_000001.10:g.11906066T>C , CM000663.1:g.11906066T>C | GRCh37 |
| NC_000001.9:g.11828653T>C | NCBI36 |
| NG_012926.1:g.6775A>G , LRG_751:g.6775A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400892.3:c.*1961+243T>C (CLCN6) | ENSP00000496938.1:n.*1961+243T>C | |
| ENST00000446542.5:n.781+243T>C (NPPA-AS1) | ||
| ENST00000376476.1:c.306A>G (NPPA) | ENSP00000365659.1:p.Ter102Trp | |
| ENST00000376480.7:c.456A>G (NPPA) MANE Select | ENSP00000365663.3:p.Ter152Trp | |
| ENST00000610706.1:c.454-1A>G (NPPA) | ENSP00000483195.1:n.454-1A>G | |
| NM_006172.3:c.456A>G , LRG_751t1:c.456A>G (NPPA) | NP_006163.1:p.Ter152Trp | |
| NR_037806.1:n.1479+243T>C (NPPA-AS1) | ||
| NM_006172.4:c.456A>G (NPPA) MANE Select | NP_006163.1:p.Ter152Trp |