Linked Data
ClinVar Variation Id:
2200453
ClinVar RCV Id:
RCV002644136
dbSNP Id:
rs376952568
gnomAD v2:
X-22266016-C-A
gnomAD v3:
X-22247899-C-A
gnomAD v4:
X-22247899-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22247899C>A , CM000685.2:g.22247899C>A | GRCh38 |
| NC_000023.10:g.22266016C>A , CM000685.1:g.22266016C>A | GRCh37 |
| NC_000023.9:g.22175937C>A | NCBI36 |
| NG_007563.2:g.220096C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683162.1:c.*134C>A (PHEX) | ENSP00000508059.1:n.*134C>A | |
| ENST00000683289.1:c.624+20288C>A (PHEX) | ENSP00000508195.1:n.624+20288C>A | |
| ENST00000683917.1:n.980C>A (PHEX) | ||
| ENST00000684356.1:c.750C>A (PHEX) | ENSP00000507619.1:p.Asn250Lys | |
| ENST00000684745.1:n.1870C>A (PHEX) | ||
| ENST00000379374.5:c.2196C>A (PHEX) MANE Select | ENSP00000368682.4:p.Asn732Lys | |
| ENST00000379374.4:c.2196C>A (PHEX) | ENSP00000368682.4:p.Asn732Lys | |
| NM_000444.5:c.2196C>A (PHEX) | NP_000435.3:p.Asn732Lys | |
| NM_001282754.1:c.*31C>A (PHEX) | NP_001269683.1:n.*31C>A | |
| XM_011545533.1:c.1440C>A (PHEX) | XP_011543835.1:p.Asn480Lys | |
| XM_011545534.1:c.1440C>A (PHEX) | XP_011543836.1:p.Asn480Lys | |
| XM_011545536.1:c.1089C>A (PHEX) | XP_011543838.1:p.Asn363Lys | |
| XR_950533.1:n.140+6040G>T | ||
| XR_950534.1:n.127+6040G>T | ||
| NR_073010.2:n.850+6040G>T (PTCHD1-AS) | ||
| XM_011545536.2:c.1089C>A (PHEX) | XP_011543838.1:p.Asn363Lys | |
| XM_017029579.1:c.1440C>A (PHEX) | XP_016885068.1:p.Asn480Lys | |
| XM_024452390.1:c.1905C>A (PHEX) | XP_024308158.1:p.Asn635Lys | |
| XR_001755695.1:n.3036C>A (PHEX) | ||
| NM_000444.6:c.2196C>A (PHEX) MANE Select | NP_000435.3:p.Asn732Lys | |
| NM_001282754.2:c.*31C>A (PHEX) | NP_001269683.1:n.*31C>A |