Linked Data
ClinVar Variation Id:
279873
dbSNP Id:
rs886041227
gnomAD v4:
X-22247942-C-T
PubMed:
PMID:9199930
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22247942C>T , CM000685.2:g.22247942C>T | GRCh38 |
| NC_000023.10:g.22266059C>T , CM000685.1:g.22266059C>T | GRCh37 |
| NC_000023.9:g.22175980C>T | NCBI36 |
| NG_007563.2:g.220139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683162.1:c.*177C>T (PHEX) | ENSP00000508059.1:n.*177C>T | |
| ENST00000683289.1:c.624+20331C>T (PHEX) | ENSP00000508195.1:n.624+20331C>T | |
| ENST00000683917.1:n.1023C>T (PHEX) | ||
| ENST00000684356.1:c.793C>T (PHEX) | ENSP00000507619.1:p.Arg265Ter | |
| ENST00000684745.1:n.1913C>T (PHEX) | ||
| ENST00000379374.5:c.2239C>T (PHEX) MANE Select | ENSP00000368682.4:p.Arg747Ter | |
| ENST00000379374.4:c.2239C>T (PHEX) | ENSP00000368682.4:p.Arg747Ter | |
| NM_000444.5:c.2239C>T (PHEX) | NP_000435.3:p.Arg747Ter | |
| NM_001282754.1:c.*74C>T (PHEX) | NP_001269683.1:n.*74C>T | |
| XM_011545533.1:c.1483C>T (PHEX) | XP_011543835.1:p.Arg495Ter | |
| XM_011545534.1:c.1483C>T (PHEX) | XP_011543836.1:p.Arg495Ter | |
| XM_011545536.1:c.1132C>T (PHEX) | XP_011543838.1:p.Arg378Ter | |
| XR_950533.1:n.140+5997G>A | ||
| XR_950534.1:n.127+5997G>A | ||
| NR_073010.2:n.850+5997G>A (PTCHD1-AS) | ||
| XM_011545536.2:c.1132C>T (PHEX) | XP_011543838.1:p.Arg378Ter | |
| XM_017029579.1:c.1483C>T (PHEX) | XP_016885068.1:p.Arg495Ter | |
| XM_024452390.1:c.1948C>T (PHEX) | XP_024308158.1:p.Arg650Ter | |
| XR_001755695.1:n.3079C>T (PHEX) | ||
| NM_000444.6:c.2239C>T (PHEX) MANE Select | NP_000435.3:p.Arg747Ter | |
| NM_001282754.2:c.*74C>T (PHEX) | NP_001269683.1:n.*74C>T |