Revel Score:
ENST00000376480 (MANE Select)
0.300
ENST00000376476
0.300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847124T>G , CM000663.2:g.11847124T>G | GRCh38 |
| NC_000001.10:g.11907181T>G , CM000663.1:g.11907181T>G | GRCh37 |
| NC_000001.9:g.11829768T>G | NCBI36 |
| NG_012926.1:g.5660A>C , LRG_751:g.5660A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-453T>G (CLCN6) | ENSP00000496938.1:n.*1962-453T>G | |
| ENST00000446542.5:n.782-310T>G (NPPA-AS1) | ||
| ENST00000376476.1:c.289A>C (NPPA) | ENSP00000365659.1:p.Asn97His | |
| ENST00000376480.7:c.439A>C (NPPA) MANE Select | ENSP00000365663.3:p.Asn147His | |
| ENST00000610706.1:c.439A>C (NPPA) | ENSP00000483195.1:p.Asn147His | |
| NM_006172.3:c.439A>C , LRG_751t1:c.439A>C (NPPA) | NP_006163.1:p.Asn147His | |
| NR_037806.1:n.1480-310T>G (NPPA-AS1) | ||
| NM_006172.4:c.439A>C (NPPA) MANE Select | NP_006163.1:p.Asn147His |