Linked Data
ClinVar Variation Id:
914541
dbSNP Id:
rs371825581
ExAC:
X:22266033 C / T
gnomAD v2:
X-22266033-C-T
gnomAD v3:
X-22247916-C-T
gnomAD v4:
X-22247916-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22247916C>T , CM000685.2:g.22247916C>T | GRCh38 |
| NC_000023.10:g.22266033C>T , CM000685.1:g.22266033C>T | GRCh37 |
| NC_000023.9:g.22175954C>T | NCBI36 |
| NG_007563.2:g.220113C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683162.1:c.*151C>T (PHEX) | ENSP00000508059.1:n.*151C>T | |
| ENST00000683289.1:c.624+20305C>T (PHEX) | ENSP00000508195.1:n.624+20305C>T | |
| ENST00000683917.1:n.997C>T (PHEX) | ||
| ENST00000684356.1:c.767C>T (PHEX) | ENSP00000507619.1:p.Thr256Met | |
| ENST00000684745.1:n.1887C>T (PHEX) | ||
| ENST00000379374.5:c.2213C>T (PHEX) MANE Select | ENSP00000368682.4:p.Thr738Met | |
| ENST00000379374.4:c.2213C>T (PHEX) | ENSP00000368682.4:p.Thr738Met | |
| NM_000444.5:c.2213C>T (PHEX) | NP_000435.3:p.Thr738Met | |
| NM_001282754.1:c.*48C>T (PHEX) | NP_001269683.1:n.*48C>T | |
| XM_011545533.1:c.1457C>T (PHEX) | XP_011543835.1:p.Thr486Met | |
| XM_011545534.1:c.1457C>T (PHEX) | XP_011543836.1:p.Thr486Met | |
| XM_011545536.1:c.1106C>T (PHEX) | XP_011543838.1:p.Thr369Met | |
| XR_950533.1:n.140+6023G>A | ||
| XR_950534.1:n.127+6023G>A | ||
| NR_073010.2:n.850+6023G>A (PTCHD1-AS) | ||
| XM_011545536.2:c.1106C>T (PHEX) | XP_011543838.1:p.Thr369Met | |
| XM_017029579.1:c.1457C>T (PHEX) | XP_016885068.1:p.Thr486Met | |
| XM_024452390.1:c.1922C>T (PHEX) | XP_024308158.1:p.Thr641Met | |
| XR_001755695.1:n.3053C>T (PHEX) | ||
| NM_000444.6:c.2213C>T (PHEX) MANE Select | NP_000435.3:p.Thr738Met | |
| NM_001282754.2:c.*48C>T (PHEX) | NP_001269683.1:n.*48C>T |