Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132680722T>G , CM000665.2:g.132680722T>G | GRCh38 |
| NC_000003.11:g.132399566T>G , CM000665.1:g.132399566T>G | GRCh37 |
| NC_000003.10:g.133882256T>G | NCBI36 |
| NG_008130.1:g.46711A>C | |
| NG_008130.2:g.46711A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337331.10:c.*1188A>C (NPHP3) MANE Select | ENSP00000338766.5:n.*1188A>C | |
| ENST00000471702.2:c.*1980+1192A>C (NPHP3-ACAD11) | ENSP00000419763.1:n.*1980+1192A>C | |
| ENST00000474871.5:n.4380A>C (NPHP3) | ||
| ENST00000632629.1:c.636+1192A>C (NPHP3-ACAD11) | ||
| NM_153240.4:c.*1188A>C (NPHP3) | NP_694972.3:n.*1188A>C | |
| NR_037804.1:n.3995+1192A>C (NPHP3-ACAD11) | ||
| NM_153240.5:c.*1188A>C (NPHP3) MANE Select | NP_694972.3:n.*1188A>C |