Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847316A>G , CM000663.2:g.11847316A>G | GRCh38 |
| NC_000001.10:g.11907373A>G , CM000663.1:g.11907373A>G | GRCh37 |
| NC_000001.9:g.11829960A>G | NCBI36 |
| NG_012926.1:g.5468T>C , LRG_751:g.5468T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-261A>G (CLCN6) | ENSP00000496938.1:n.*1962-261A>G | |
| ENST00000446542.5:n.782-118A>G (NPPA-AS1) | ||
| ENST00000376476.1:c.97T>C (NPPA) | ENSP00000365659.1:p.Trp33Arg | |
| ENST00000376480.7:c.247T>C (NPPA) MANE Select | ENSP00000365663.3:p.Trp83Arg | |
| ENST00000610706.1:c.247T>C (NPPA) | ENSP00000483195.1:p.Trp83Arg | |
| NM_006172.3:c.247T>C , LRG_751t1:c.247T>C (NPPA) | NP_006163.1:p.Trp83Arg | |
| NR_037806.1:n.1480-118A>G (NPPA-AS1) | ||
| NM_006172.4:c.247T>C (NPPA) MANE Select | NP_006163.1:p.Trp83Arg |