Revel Score:
ENST00000379374 (MANE Select)
0.800
ENST00000535894
0.800
ENST00000418858
0.800
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22245339T>C , CM000685.2:g.22245339T>C | GRCh38 |
| NC_000023.10:g.22263456T>C , CM000685.1:g.22263456T>C | GRCh37 |
| NC_000023.9:g.22173377T>C | NCBI36 |
| NG_007563.2:g.217536T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683162.1:c.631T>C (PHEX) | ENSP00000508059.1:p.Cys211Arg | |
| ENST00000683289.1:c.624+17728T>C (PHEX) | ENSP00000508195.1:n.624+17728T>C | |
| ENST00000683917.1:n.861T>C (PHEX) | ||
| ENST00000684356.1:c.631T>C (PHEX) | ENSP00000507619.1:p.Cys211Arg | |
| ENST00000684745.1:n.1751T>C (PHEX) | ||
| ENST00000379374.5:c.2077T>C (PHEX) MANE Select | ENSP00000368682.4:p.Cys693Arg | |
| ENST00000379374.4:c.2077T>C (PHEX) | ENSP00000368682.4:p.Cys693Arg | |
| NM_000444.5:c.2077T>C (PHEX) | NP_000435.3:p.Cys693Arg | |
| NM_001282754.1:c.2071-2512T>C (PHEX) | NP_001269683.1:n.2071-2512T>C | |
| XM_011545533.1:c.1321T>C (PHEX) | XP_011543835.1:p.Cys441Arg | |
| XM_011545534.1:c.1321T>C (PHEX) | XP_011543836.1:p.Cys441Arg | |
| XM_011545536.1:c.970T>C (PHEX) | XP_011543838.1:p.Cys324Arg | |
| XR_950533.1:n.140+8600A>G | ||
| XR_950534.1:n.127+8600A>G | ||
| NR_073010.2:n.850+8600A>G (PTCHD1-AS) | ||
| XM_011545536.2:c.970T>C (PHEX) | XP_011543838.1:p.Cys324Arg | |
| XM_017029579.1:c.1321T>C (PHEX) | XP_016885068.1:p.Cys441Arg | |
| XM_024452390.1:c.1786T>C (PHEX) | XP_024308158.1:p.Cys596Arg | |
| XR_001755695.1:n.2917T>C (PHEX) | ||
| NM_000444.6:c.2077T>C (PHEX) MANE Select | NP_000435.3:p.Cys693Arg | |
| NM_001282754.2:c.2071-2512T>C (PHEX) | NP_001269683.1:n.2071-2512T>C |