Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847188C= , CM000663.2:g.11847188C= | GRCh38 |
| NC_000001.10:g.11907245C= , CM000663.1:g.11907245C= | GRCh37 |
| NC_000001.9:g.11829832C= | NCBI36 |
| NG_012926.1:g.5596G= , LRG_751:g.5596G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-389C= (CLCN6) | ENSP00000496938.1:n.*1962-389C= | |
| ENST00000446542.5:n.782-246C= (NPPA-AS1) | ||
| ENST00000376476.1:c.225G= (NPPA) | ENSP00000365659.1:p.Leu75= | |
| ENST00000376480.7:c.375G= (NPPA) MANE Select | ENSP00000365663.3:p.Leu125= | |
| ENST00000610706.1:c.375G= (NPPA) | ENSP00000483195.1:p.Leu125= | |
| NM_006172.3:c.375G= , LRG_751t1:c.375G= (NPPA) | NP_006163.1:p.Leu125= | |
| NR_037806.1:n.1480-246C= (NPPA-AS1) | ||
| NM_006172.4:c.375G= (NPPA) MANE Select | NP_006163.1:p.Leu125= |