Linked Data
dbSNP Id:
rs993410261
gnomAD v4:
X-22248017-C-A
MyVariant Identifiers:
chrX:g.22248017C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22248017C>A , CM000685.2:g.22248017C>A | GRCh38 |
| NC_000023.10:g.22266134C>A , CM000685.1:g.22266134C>A | GRCh37 |
| NC_000023.9:g.22176055C>A | NCBI36 |
| NG_007563.2:g.220214C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683162.1:c.*252C>A (PHEX) | ENSP00000508059.1:n.*252C>A | |
| ENST00000683289.1:c.624+20406C>A (PHEX) | ENSP00000508195.1:n.624+20406C>A | |
| ENST00000683917.1:n.1098C>A (PHEX) | ||
| ENST00000684356.1:c.*64C>A (PHEX) | ENSP00000507619.1:n.*64C>A | |
| ENST00000684745.1:n.1988C>A (PHEX) | ||
| ENST00000379374.5:c.*64C>A (PHEX) MANE Select | ENSP00000368682.4:n.*64C>A | |
| ENST00000379374.4:c.*64C>A (PHEX) | ENSP00000368682.4:n.*64C>A | |
| NM_000444.5:c.*64C>A (PHEX) | NP_000435.3:n.*64C>A | |
| NM_001282754.1:c.*149C>A (PHEX) | NP_001269683.1:n.*149C>A | |
| XM_011545533.1:c.*64C>A (PHEX) | XP_011543835.1:n.*64C>A | |
| XM_011545534.1:c.*64C>A (PHEX) | XP_011543836.1:n.*64C>A | |
| XM_011545536.1:c.*64C>A (PHEX) | XP_011543838.1:n.*64C>A | |
| XR_950533.1:n.140+5922G>T | ||
| XR_950534.1:n.127+5922G>T | ||
| NR_073010.2:n.850+5922G>T (PTCHD1-AS) | ||
| XM_011545536.2:c.*64C>A (PHEX) | XP_011543838.1:n.*64C>A | |
| XM_017029579.1:c.*64C>A (PHEX) | XP_016885068.1:n.*64C>A | |
| XM_024452390.1:c.*64C>A (PHEX) | XP_024308158.1:n.*64C>A | |
| XR_001755695.1:n.3154C>A (PHEX) | ||
| NM_000444.6:c.*64C>A (PHEX) MANE Select | NP_000435.3:n.*64C>A | |
| NM_001282754.2:c.*149C>A (PHEX) | NP_001269683.1:n.*149C>A |