Linked Data
dbSNP Id:
rs765244049
ExAC:
X:22239683 A / G
gnomAD v2:
X-22239683-A-G
gnomAD v4:
X-22221566-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22221566A>G , CM000685.2:g.22221566A>G | GRCh38 |
| NC_000023.10:g.22239683A>G , CM000685.1:g.22239683A>G | GRCh37 |
| NC_000023.9:g.22149604A>G | NCBI36 |
| NG_007563.2:g.193763A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682888.1:c.323-47A>G (PHEX) | ENSP00000508003.1:n.323-47A>G | |
| ENST00000683162.1:c.323-47A>G (PHEX) | ENSP00000508059.1:n.323-47A>G | |
| ENST00000683289.1:c.323-47A>G (PHEX) | ENSP00000508195.1:n.323-47A>G | |
| ENST00000683917.1:n.553-47A>G (PHEX) | ||
| ENST00000684356.1:c.323-47A>G (PHEX) | ENSP00000507619.1:n.323-47A>G | |
| ENST00000684745.1:n.1443-47A>G (PHEX) | ||
| ENST00000379374.5:c.1769-47A>G (PHEX) MANE Select | ENSP00000368682.4:n.1769-47A>G | |
| ENST00000379374.4:c.1769-47A>G (PHEX) | ENSP00000368682.4:n.1769-47A>G | |
| NM_000444.5:c.1769-47A>G (PHEX) | NP_000435.3:n.1769-47A>G | |
| NM_001282754.1:c.1769-47A>G (PHEX) | NP_001269683.1:n.1769-47A>G | |
| XM_011545533.1:c.1013-47A>G (PHEX) | XP_011543835.1:n.1013-47A>G | |
| XM_011545534.1:c.1013-47A>G (PHEX) | XP_011543836.1:n.1013-47A>G | |
| XM_011545536.1:c.662-47A>G (PHEX) | XP_011543838.1:n.662-47A>G | |
| NR_073010.2:n.1048+5904T>C (PTCHD1-AS) | ||
| XM_011545536.2:c.662-47A>G (PHEX) | XP_011543838.1:n.662-47A>G | |
| XM_017029579.1:c.1013-47A>G (PHEX) | XP_016885068.1:n.1013-47A>G | |
| XM_024452390.1:c.1478-47A>G (PHEX) | XP_024308158.1:n.1478-47A>G | |
| XR_001755695.1:n.2609-47A>G (PHEX) | ||
| NM_000444.6:c.1769-47A>G (PHEX) MANE Select | NP_000435.3:n.1769-47A>G | |
| NM_001282754.2:c.1769-47A>G (PHEX) | NP_001269683.1:n.1769-47A>G |