Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847681T>G , CM000663.2:g.11847681T>G | GRCh38 |
| NC_000001.10:g.11907738T>G , CM000663.1:g.11907738T>G | GRCh37 |
| NC_000001.9:g.11830325T>G | NCBI36 |
| NG_012926.1:g.5103A>C , LRG_751:g.5103A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*2066T>G (CLCN6) | ENSP00000496938.1:n.*2066T>G | |
| ENST00000446542.5:n.1029T>G (NPPA-AS1) | ||
| ENST00000376476.1:c.-27-242A>C (NPPA) | ENSP00000365659.1:n.-27-242A>C | |
| ENST00000376480.7:c.4A>C (NPPA) MANE Select | ENSP00000365663.3:p.Ser2Arg | |
| ENST00000610706.1:c.4A>C (NPPA) | ENSP00000483195.1:p.Ser2Arg | |
| NM_006172.3:c.4A>C , LRG_751t1:c.4A>C (NPPA) | NP_006163.1:p.Ser2Arg | |
| NM_006172.4:c.4A>C (NPPA) MANE Select | NP_006163.1:p.Ser2Arg |