Revel Score:
ENST00000379374 (MANE Select)
0.805
ENST00000537599
0.805
ENST00000535894
0.805
ENST00000418858
0.805
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22227602T>G , CM000685.2:g.22227602T>G | GRCh38 |
| NC_000023.10:g.22245719T>G , CM000685.1:g.22245719T>G | GRCh37 |
| NC_000023.9:g.22155640T>G | NCBI36 |
| NG_007563.2:g.199799T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683162.1:c.615T>G (PHEX) | ENSP00000508059.1:p.Ser205Arg | |
| ENST00000683289.1:c.615T>G (PHEX) | ENSP00000508195.1:p.Ser205Arg | |
| ENST00000683917.1:n.845T>G (PHEX) | ||
| ENST00000684356.1:c.615T>G (PHEX) | ENSP00000507619.1:p.Ser205Arg | |
| ENST00000684745.1:n.1735T>G (PHEX) | ||
| ENST00000379374.5:c.2061T>G (PHEX) MANE Select | ENSP00000368682.4:p.Ser687Arg | |
| ENST00000379374.4:c.2061T>G (PHEX) | ENSP00000368682.4:p.Ser687Arg | |
| NM_000444.5:c.2061T>G (PHEX) | NP_000435.3:p.Ser687Arg | |
| NM_001282754.1:c.2061T>G (PHEX) | NP_001269683.1:p.Ser687Arg | |
| XM_011545533.1:c.1305T>G (PHEX) | XP_011543835.1:p.Ser435Arg | |
| XM_011545534.1:c.1305T>G (PHEX) | XP_011543836.1:p.Ser435Arg | |
| XM_011545536.1:c.954T>G (PHEX) | XP_011543838.1:p.Ser318Arg | |
| XR_950533.1:n.333A>C | ||
| XR_950534.1:n.193A>C | ||
| NR_073010.2:n.916A>C (PTCHD1-AS) | ||
| XM_011545536.2:c.954T>G (PHEX) | XP_011543838.1:p.Ser318Arg | |
| XM_017029579.1:c.1305T>G (PHEX) | XP_016885068.1:p.Ser435Arg | |
| XM_024452390.1:c.1770T>G (PHEX) | XP_024308158.1:p.Ser590Arg | |
| XR_001755695.1:n.2901T>G (PHEX) | ||
| NM_000444.6:c.2061T>G (PHEX) MANE Select | NP_000435.3:p.Ser687Arg | |
| NM_001282754.2:c.2061T>G (PHEX) | NP_001269683.1:p.Ser687Arg |