Linked Data
ClinVar Variation Id:
1990816
ClinVar RCV Id:
RCV002805864
dbSNP Id:
rs368650387
ExAC:
X:22239710 C / T
gnomAD v2:
X-22239710-C-T
gnomAD v3:
X-22221593-C-T
gnomAD v4:
X-22221593-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22221593C>T , CM000685.2:g.22221593C>T | GRCh38 |
| NC_000023.10:g.22239710C>T , CM000685.1:g.22239710C>T | GRCh37 |
| NC_000023.9:g.22149631C>T | NCBI36 |
| NG_007563.2:g.193790C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682888.1:c.323-20C>T (PHEX) | ENSP00000508003.1:n.323-20C>T | |
| ENST00000683162.1:c.323-20C>T (PHEX) | ENSP00000508059.1:n.323-20C>T | |
| ENST00000683289.1:c.323-20C>T (PHEX) | ENSP00000508195.1:n.323-20C>T | |
| ENST00000683917.1:n.553-20C>T (PHEX) | ||
| ENST00000684356.1:c.323-20C>T (PHEX) | ENSP00000507619.1:n.323-20C>T | |
| ENST00000684745.1:n.1443-20C>T (PHEX) | ||
| ENST00000379374.5:c.1769-20C>T (PHEX) MANE Select | ENSP00000368682.4:n.1769-20C>T | |
| ENST00000379374.4:c.1769-20C>T (PHEX) | ENSP00000368682.4:n.1769-20C>T | |
| NM_000444.5:c.1769-20C>T (PHEX) | NP_000435.3:n.1769-20C>T | |
| NM_001282754.1:c.1769-20C>T (PHEX) | NP_001269683.1:n.1769-20C>T | |
| XM_011545533.1:c.1013-20C>T (PHEX) | XP_011543835.1:n.1013-20C>T | |
| XM_011545534.1:c.1013-20C>T (PHEX) | XP_011543836.1:n.1013-20C>T | |
| XM_011545536.1:c.662-20C>T (PHEX) | XP_011543838.1:n.662-20C>T | |
| NR_073010.2:n.1048+5877G>A (PTCHD1-AS) | ||
| XM_011545536.2:c.662-20C>T (PHEX) | XP_011543838.1:n.662-20C>T | |
| XM_017029579.1:c.1013-20C>T (PHEX) | XP_016885068.1:n.1013-20C>T | |
| XM_024452390.1:c.1478-20C>T (PHEX) | XP_024308158.1:n.1478-20C>T | |
| XR_001755695.1:n.2609-20C>T (PHEX) | ||
| NM_000444.6:c.1769-20C>T (PHEX) MANE Select | NP_000435.3:n.1769-20C>T | |
| NM_001282754.2:c.1769-20C>T (PHEX) | NP_001269683.1:n.1769-20C>T |