Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847628G>A , CM000663.2:g.11847628G>A | GRCh38 |
| NC_000001.10:g.11907685G>A , CM000663.1:g.11907685G>A | GRCh37 |
| NC_000001.9:g.11830272G>A | NCBI36 |
| NG_012926.1:g.5156C>T , LRG_751:g.5156C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*2013G>A (CLCN6) | ENSP00000496938.1:n.*2013G>A | |
| ENST00000446542.5:n.976G>A (NPPA-AS1) | ||
| ENST00000376476.1:c.-27-189C>T (NPPA) | ENSP00000365659.1:n.-27-189C>T | |
| ENST00000376480.7:c.57C>T (NPPA) MANE Select | ENSP00000365663.3:p.Leu19= | |
| ENST00000610706.1:c.57C>T (NPPA) | ENSP00000483195.1:p.Leu19= | |
| NM_006172.3:c.57C>T , LRG_751t1:c.57C>T (NPPA) | NP_006163.1:p.Leu19= | |
| NM_006172.4:c.57C>T (NPPA) MANE Select | NP_006163.1:p.Leu19= |