Revel Score:
ENST00000379374 (MANE Select)
0.963
ENST00000537599
0.963
ENST00000535894
0.963
ENST00000418858
0.963
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22219071G>A , CM000685.2:g.22219071G>A | GRCh38 |
| NC_000023.10:g.22237188G>A , CM000685.1:g.22237188G>A | GRCh37 |
| NC_000023.9:g.22147109G>A | NCBI36 |
| NG_007563.2:g.191268G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682888.1:c.290G>A (PHEX) | ENSP00000508003.1:p.Gly97Glu | |
| ENST00000683162.1:c.290G>A (PHEX) | ENSP00000508059.1:p.Gly97Glu | |
| ENST00000683289.1:c.290G>A (PHEX) | ENSP00000508195.1:p.Gly97Glu | |
| ENST00000683917.1:n.520G>A (PHEX) | ||
| ENST00000684356.1:c.290G>A (PHEX) | ENSP00000507619.1:p.Gly97Glu | |
| ENST00000684745.1:n.1410G>A (PHEX) | ||
| ENST00000379374.5:c.1736G>A (PHEX) MANE Select | ENSP00000368682.4:p.Gly579Glu | |
| ENST00000379374.4:c.1736G>A (PHEX) | ENSP00000368682.4:p.Gly579Glu | |
| NM_000444.5:c.1736G>A (PHEX) | NP_000435.3:p.Gly579Glu | |
| NM_001282754.1:c.1736G>A (PHEX) | NP_001269683.1:p.Gly579Glu | |
| XM_011545533.1:c.980G>A (PHEX) | XP_011543835.1:p.Gly327Glu | |
| XM_011545534.1:c.980G>A (PHEX) | XP_011543836.1:p.Gly327Glu | |
| XM_011545536.1:c.629G>A (PHEX) | XP_011543838.1:p.Gly210Glu | |
| NR_073010.2:n.1048+8399C>T (PTCHD1-AS) | ||
| XM_011545536.2:c.629G>A (PHEX) | XP_011543838.1:p.Gly210Glu | |
| XM_017029579.1:c.980G>A (PHEX) | XP_016885068.1:p.Gly327Glu | |
| XM_024452390.1:c.1445G>A (PHEX) | XP_024308158.1:p.Gly482Glu | |
| XR_001755695.1:n.2576G>A (PHEX) | ||
| NM_000444.6:c.1736G>A (PHEX) MANE Select | NP_000435.3:p.Gly579Glu | |
| NM_001282754.2:c.1736G>A (PHEX) | NP_001269683.1:p.Gly579Glu |