Linked Data
ClinVar Variation Id:
1718565
ClinVar RCV Id:
RCV002299890
dbSNP Id:
rs367955819
gnomAD v4:
X-22247910-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22247910A>G , CM000685.2:g.22247910A>G | GRCh38 |
| NC_000023.10:g.22266027A>G , CM000685.1:g.22266027A>G | GRCh37 |
| NC_000023.9:g.22175948A>G | NCBI36 |
| NG_007563.2:g.220107A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683162.1:c.*145A>G (PHEX) | ENSP00000508059.1:n.*145A>G | |
| ENST00000683289.1:c.624+20299A>G (PHEX) | ENSP00000508195.1:n.624+20299A>G | |
| ENST00000683917.1:n.991A>G (PHEX) | ||
| ENST00000684356.1:c.761A>G (PHEX) | ENSP00000507619.1:p.Asn254Ser | |
| ENST00000684745.1:n.1881A>G (PHEX) | ||
| ENST00000379374.5:c.2207A>G (PHEX) MANE Select | ENSP00000368682.4:p.Asn736Ser | |
| ENST00000379374.4:c.2207A>G (PHEX) | ENSP00000368682.4:p.Asn736Ser | |
| NM_000444.5:c.2207A>G (PHEX) | NP_000435.3:p.Asn736Ser | |
| NM_001282754.1:c.*42A>G (PHEX) | NP_001269683.1:n.*42A>G | |
| XM_011545533.1:c.1451A>G (PHEX) | XP_011543835.1:p.Asn484Ser | |
| XM_011545534.1:c.1451A>G (PHEX) | XP_011543836.1:p.Asn484Ser | |
| XM_011545536.1:c.1100A>G (PHEX) | XP_011543838.1:p.Asn367Ser | |
| XR_950533.1:n.140+6029T>C | ||
| XR_950534.1:n.127+6029T>C | ||
| NR_073010.2:n.850+6029T>C (PTCHD1-AS) | ||
| XM_011545536.2:c.1100A>G (PHEX) | XP_011543838.1:p.Asn367Ser | |
| XM_017029579.1:c.1451A>G (PHEX) | XP_016885068.1:p.Asn484Ser | |
| XM_024452390.1:c.1916A>G (PHEX) | XP_024308158.1:p.Asn639Ser | |
| XR_001755695.1:n.3047A>G (PHEX) | ||
| NM_000444.6:c.2207A>G (PHEX) MANE Select | NP_000435.3:p.Asn736Ser | |
| NM_001282754.2:c.*42A>G (PHEX) | NP_001269683.1:n.*42A>G |