Linked Data
dbSNP Id:
rs767518128
ExAC:
X:22265993 G / A
gnomAD v3:
X-22247876-G-A
gnomAD v4:
X-22247876-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22247876G>A , CM000685.2:g.22247876G>A | GRCh38 |
| NC_000023.10:g.22265993G>A , CM000685.1:g.22265993G>A | GRCh37 |
| NC_000023.9:g.22175914G>A | NCBI36 |
| NG_007563.2:g.220073G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683162.1:c.*111G>A (PHEX) | ENSP00000508059.1:n.*111G>A | |
| ENST00000683289.1:c.624+20265G>A (PHEX) | ENSP00000508195.1:n.624+20265G>A | |
| ENST00000683917.1:n.957G>A (PHEX) | ||
| ENST00000684356.1:c.727G>A (PHEX) | ENSP00000507619.1:p.Glu243Lys | |
| ENST00000684745.1:n.1847G>A (PHEX) | ||
| ENST00000379374.5:c.2173G>A (PHEX) MANE Select | ENSP00000368682.4:p.Glu725Lys | |
| ENST00000379374.4:c.2173G>A (PHEX) | ENSP00000368682.4:p.Glu725Lys | |
| NM_000444.5:c.2173G>A (PHEX) | NP_000435.3:p.Glu725Lys | |
| NM_001282754.1:c.*8G>A (PHEX) | NP_001269683.1:n.*8G>A | |
| XM_011545533.1:c.1417G>A (PHEX) | XP_011543835.1:p.Glu473Lys | |
| XM_011545534.1:c.1417G>A (PHEX) | XP_011543836.1:p.Glu473Lys | |
| XM_011545536.1:c.1066G>A (PHEX) | XP_011543838.1:p.Glu356Lys | |
| XR_950533.1:n.140+6063C>T | ||
| XR_950534.1:n.127+6063C>T | ||
| NR_073010.2:n.850+6063C>T (PTCHD1-AS) | ||
| XM_011545536.2:c.1066G>A (PHEX) | XP_011543838.1:p.Glu356Lys | |
| XM_017029579.1:c.1417G>A (PHEX) | XP_016885068.1:p.Glu473Lys | |
| XM_024452390.1:c.1882G>A (PHEX) | XP_024308158.1:p.Glu628Lys | |
| XR_001755695.1:n.3013G>A (PHEX) | ||
| NM_000444.6:c.2173G>A (PHEX) MANE Select | NP_000435.3:p.Glu725Lys | |
| NM_001282754.2:c.*8G>A (PHEX) | NP_001269683.1:n.*8G>A |