Revel Score:
ENST00000379374 (MANE Select)
0.388
ENST00000537599
0.388
ENST00000535894
0.388
ENST00000418858
0.388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22221620A>C , CM000685.2:g.22221620A>C | GRCh38 |
| NC_000023.10:g.22239737A>C , CM000685.1:g.22239737A>C | GRCh37 |
| NC_000023.9:g.22149658A>C | NCBI36 |
| NG_007563.2:g.193817A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682888.1:c.330A>C (PHEX) | ENSP00000508003.1:p.Lys110Asn | |
| ENST00000683162.1:c.330A>C (PHEX) | ENSP00000508059.1:p.Lys110Asn | |
| ENST00000683289.1:c.330A>C (PHEX) | ENSP00000508195.1:p.Lys110Asn | |
| ENST00000683917.1:n.560A>C (PHEX) | ||
| ENST00000684356.1:c.330A>C (PHEX) | ENSP00000507619.1:p.Lys110Asn | |
| ENST00000684745.1:n.1450A>C (PHEX) | ||
| ENST00000379374.5:c.1776A>C (PHEX) MANE Select | ENSP00000368682.4:p.Lys592Asn | |
| ENST00000379374.4:c.1776A>C (PHEX) | ENSP00000368682.4:p.Lys592Asn | |
| NM_000444.5:c.1776A>C (PHEX) | NP_000435.3:p.Lys592Asn | |
| NM_001282754.1:c.1776A>C (PHEX) | NP_001269683.1:p.Lys592Asn | |
| XM_011545533.1:c.1020A>C (PHEX) | XP_011543835.1:p.Lys340Asn | |
| XM_011545534.1:c.1020A>C (PHEX) | XP_011543836.1:p.Lys340Asn | |
| XM_011545536.1:c.669A>C (PHEX) | XP_011543838.1:p.Lys223Asn | |
| NR_073010.2:n.1048+5850T>G (PTCHD1-AS) | ||
| XM_011545536.2:c.669A>C (PHEX) | XP_011543838.1:p.Lys223Asn | |
| XM_017029579.1:c.1020A>C (PHEX) | XP_016885068.1:p.Lys340Asn | |
| XM_024452390.1:c.1485A>C (PHEX) | XP_024308158.1:p.Lys495Asn | |
| XR_001755695.1:n.2616A>C (PHEX) | ||
| NM_000444.6:c.1776A>C (PHEX) MANE Select | NP_000435.3:p.Lys592Asn | |
| NM_001282754.2:c.1776A>C (PHEX) | NP_001269683.1:p.Lys592Asn |