Linked Data
ClinVar Variation Id:
2745731
ClinVar RCV Id:
RCV003568189
MyVariant Identifiers:
chrX:g.22266034G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22247917G>T , CM000685.2:g.22247917G>T | GRCh38 |
| NC_000023.10:g.22266034G>T , CM000685.1:g.22266034G>T | GRCh37 |
| NC_000023.9:g.22175955G>T | NCBI36 |
| NG_007563.2:g.220114G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683162.1:c.*152G>T (PHEX) | ENSP00000508059.1:n.*152G>T | |
| ENST00000683289.1:c.624+20306G>T (PHEX) | ENSP00000508195.1:n.624+20306G>T | |
| ENST00000683917.1:n.998G>T (PHEX) | ||
| ENST00000684356.1:c.768G>T (PHEX) | ENSP00000507619.1:p.Thr256= | |
| ENST00000684745.1:n.1888G>T (PHEX) | ||
| ENST00000379374.5:c.2214G>T (PHEX) MANE Select | ENSP00000368682.4:p.Thr738= | |
| ENST00000379374.4:c.2214G>T (PHEX) | ENSP00000368682.4:p.Thr738= | |
| NM_000444.5:c.2214G>T (PHEX) | NP_000435.3:p.Thr738= | |
| NM_001282754.1:c.*49G>T (PHEX) | NP_001269683.1:n.*49G>T | |
| XM_011545533.1:c.1458G>T (PHEX) | XP_011543835.1:p.Thr486= | |
| XM_011545534.1:c.1458G>T (PHEX) | XP_011543836.1:p.Thr486= | |
| XM_011545536.1:c.1107G>T (PHEX) | XP_011543838.1:p.Thr369= | |
| XR_950533.1:n.140+6022C>A | ||
| XR_950534.1:n.127+6022C>A | ||
| NR_073010.2:n.850+6022C>A (PTCHD1-AS) | ||
| XM_011545536.2:c.1107G>T (PHEX) | XP_011543838.1:p.Thr369= | |
| XM_017029579.1:c.1458G>T (PHEX) | XP_016885068.1:p.Thr486= | |
| XM_024452390.1:c.1923G>T (PHEX) | XP_024308158.1:p.Thr641= | |
| XR_001755695.1:n.3054G>T (PHEX) | ||
| NM_000444.6:c.2214G>T (PHEX) MANE Select | NP_000435.3:p.Thr738= | |
| NM_001282754.2:c.*49G>T (PHEX) | NP_001269683.1:n.*49G>T |