Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11845830A= , CM000663.2:g.11845830A= | GRCh38 |
| NC_000001.10:g.11905887A= , CM000663.1:g.11905887A= | GRCh37 |
| NC_000001.9:g.11828474A= | NCBI36 |
| NG_012926.1:g.6954T= , LRG_751:g.6954T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400892.3:c.*1961+64A= (CLCN6) | ENSP00000496938.1:n.*1961+64A= | |
| ENST00000446542.5:n.781+64A= (NPPA-AS1) | ||
| ENST00000376480.7:c.*179T= (NPPA) MANE Select | ENSP00000365663.3:n.*179T= | |
| ENST00000610706.1:c.*173T= (NPPA) | ENSP00000483195.1:n.*173T= | |
| NM_006172.3:c.*179T= , LRG_751t1:c.*179T= (NPPA) | NP_006163.1:n.*179T= | |
| NR_037806.1:n.1479+64A= (NPPA-AS1) | ||
| NM_006172.4:c.*179T= (NPPA) MANE Select | NP_006163.1:n.*179T= |