Linked Data
ClinVar Variation Id:
438487
ClinVar RCV Id:
RCV001307376
dbSNP Id:
rs1057517981
PubMed:
PMID:10439971
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22247901G>C , CM000685.2:g.22247901G>C | GRCh38 |
| NC_000023.10:g.22266018G>C , CM000685.1:g.22266018G>C | GRCh37 |
| NC_000023.9:g.22175939G>C | NCBI36 |
| NG_007563.2:g.220098G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683162.1:c.*136G>C (PHEX) | ENSP00000508059.1:n.*136G>C | |
| ENST00000683289.1:c.624+20290G>C (PHEX) | ENSP00000508195.1:n.624+20290G>C | |
| ENST00000683917.1:n.982G>C (PHEX) | ||
| ENST00000684356.1:c.752G>C (PHEX) | ENSP00000507619.1:p.Cys251Ser | |
| ENST00000684745.1:n.1872G>C (PHEX) | ||
| ENST00000379374.5:c.2198G>C (PHEX) MANE Select | ENSP00000368682.4:p.Cys733Ser | |
| ENST00000379374.4:c.2198G>C (PHEX) | ENSP00000368682.4:p.Cys733Ser | |
| NM_000444.5:c.2198G>C (PHEX) | NP_000435.3:p.Cys733Ser | |
| NM_001282754.1:c.*33G>C (PHEX) | NP_001269683.1:n.*33G>C | |
| XM_011545533.1:c.1442G>C (PHEX) | XP_011543835.1:p.Cys481Ser | |
| XM_011545534.1:c.1442G>C (PHEX) | XP_011543836.1:p.Cys481Ser | |
| XM_011545536.1:c.1091G>C (PHEX) | XP_011543838.1:p.Cys364Ser | |
| XR_950533.1:n.140+6038C>G | ||
| XR_950534.1:n.127+6038C>G | ||
| NR_073010.2:n.850+6038C>G (PTCHD1-AS) | ||
| XM_011545536.2:c.1091G>C (PHEX) | XP_011543838.1:p.Cys364Ser | |
| XM_017029579.1:c.1442G>C (PHEX) | XP_016885068.1:p.Cys481Ser | |
| XM_024452390.1:c.1907G>C (PHEX) | XP_024308158.1:p.Cys636Ser | |
| XR_001755695.1:n.3038G>C (PHEX) | ||
| NM_000444.6:c.2198G>C (PHEX) MANE Select | NP_000435.3:p.Cys733Ser | |
| NM_001282754.2:c.*33G>C (PHEX) | NP_001269683.1:n.*33G>C |