Linked Data
ClinVar Variation Id:
2004510
ClinVar RCV Id:
RCV002816149
gnomAD v4:
X-22221623-T-C
MyVariant Identifiers:
chrX:g.22239740T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22221623T>C , CM000685.2:g.22221623T>C | GRCh38 |
| NC_000023.10:g.22239740T>C , CM000685.1:g.22239740T>C | GRCh37 |
| NC_000023.9:g.22149661T>C | NCBI36 |
| NG_007563.2:g.193820T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682888.1:c.333T>C (PHEX) | ENSP00000508003.1:p.Tyr111= | |
| ENST00000683162.1:c.333T>C (PHEX) | ENSP00000508059.1:p.Tyr111= | |
| ENST00000683289.1:c.333T>C (PHEX) | ENSP00000508195.1:p.Tyr111= | |
| ENST00000683917.1:n.563T>C (PHEX) | ||
| ENST00000684356.1:c.333T>C (PHEX) | ENSP00000507619.1:p.Tyr111= | |
| ENST00000684745.1:n.1453T>C (PHEX) | ||
| ENST00000379374.5:c.1779T>C (PHEX) MANE Select | ENSP00000368682.4:p.Tyr593= | |
| ENST00000379374.4:c.1779T>C (PHEX) | ENSP00000368682.4:p.Tyr593= | |
| NM_000444.5:c.1779T>C (PHEX) | NP_000435.3:p.Tyr593= | |
| NM_001282754.1:c.1779T>C (PHEX) | NP_001269683.1:p.Tyr593= | |
| XM_011545533.1:c.1023T>C (PHEX) | XP_011543835.1:p.Tyr341= | |
| XM_011545534.1:c.1023T>C (PHEX) | XP_011543836.1:p.Tyr341= | |
| XM_011545536.1:c.672T>C (PHEX) | XP_011543838.1:p.Tyr224= | |
| NR_073010.2:n.1048+5847A>G (PTCHD1-AS) | ||
| XM_011545536.2:c.672T>C (PHEX) | XP_011543838.1:p.Tyr224= | |
| XM_017029579.1:c.1023T>C (PHEX) | XP_016885068.1:p.Tyr341= | |
| XM_024452390.1:c.1488T>C (PHEX) | XP_024308158.1:p.Tyr496= | |
| XR_001755695.1:n.2619T>C (PHEX) | ||
| NM_000444.6:c.1779T>C (PHEX) MANE Select | NP_000435.3:p.Tyr593= | |
| NM_001282754.2:c.1779T>C (PHEX) | NP_001269683.1:p.Tyr593= |