Revel Score:
ENST00000379374 (MANE Select)
0.879
ENST00000537599
0.879
ENST00000535894
0.879
ENST00000418858
0.879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22227600A>C , CM000685.2:g.22227600A>C | GRCh38 |
| NC_000023.10:g.22245717A>C , CM000685.1:g.22245717A>C | GRCh37 |
| NC_000023.9:g.22155638A>C | NCBI36 |
| NG_007563.2:g.199797A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683162.1:c.613A>C (PHEX) | ENSP00000508059.1:p.Ser205Arg | |
| ENST00000683289.1:c.613A>C (PHEX) | ENSP00000508195.1:p.Ser205Arg | |
| ENST00000683917.1:n.843A>C (PHEX) | ||
| ENST00000684356.1:c.613A>C (PHEX) | ENSP00000507619.1:p.Ser205Arg | |
| ENST00000684745.1:n.1733A>C (PHEX) | ||
| ENST00000379374.5:c.2059A>C (PHEX) MANE Select | ENSP00000368682.4:p.Ser687Arg | |
| ENST00000379374.4:c.2059A>C (PHEX) | ENSP00000368682.4:p.Ser687Arg | |
| NM_000444.5:c.2059A>C (PHEX) | NP_000435.3:p.Ser687Arg | |
| NM_001282754.1:c.2059A>C (PHEX) | NP_001269683.1:p.Ser687Arg | |
| XM_011545533.1:c.1303A>C (PHEX) | XP_011543835.1:p.Ser435Arg | |
| XM_011545534.1:c.1303A>C (PHEX) | XP_011543836.1:p.Ser435Arg | |
| XM_011545536.1:c.952A>C (PHEX) | XP_011543838.1:p.Ser318Arg | |
| XR_950533.1:n.335T>G | ||
| XR_950534.1:n.195T>G | ||
| NR_073010.2:n.918T>G (PTCHD1-AS) | ||
| XM_011545536.2:c.952A>C (PHEX) | XP_011543838.1:p.Ser318Arg | |
| XM_017029579.1:c.1303A>C (PHEX) | XP_016885068.1:p.Ser435Arg | |
| XM_024452390.1:c.1768A>C (PHEX) | XP_024308158.1:p.Ser590Arg | |
| XR_001755695.1:n.2899A>C (PHEX) | ||
| NM_000444.6:c.2059A>C (PHEX) MANE Select | NP_000435.3:p.Ser687Arg | |
| NM_001282754.2:c.2059A>C (PHEX) | NP_001269683.1:p.Ser687Arg |