Canonical Allele Identifier: CA16043220
Gene: PHEX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372450
ClinVar RCV Id: RCV000414040
dbSNP Id: rs1057517787

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22076464C>A , CM000685.2:g.22076464C>A GRCh38
NC_000023.10:g.22094582C>A , CM000685.1:g.22094582C>A GRCh37
NC_000023.9:g.22004503C>A NCBI36
NG_007563.2:g.48662C>A

Transcript Alleles

HGVS Amino-acid change
NM_000444.5:c.426C>A VV NP_000435.3:p.Cys142Ter
NM_001282754.1:c.426C>A VV NP_001269683.1:p.Cys142Ter
XM_011545535.1:c.426C>A XP_011543837.1:p.Cys142Ter
XM_017029579.1:c.-93-13965C>A XP_016885068.1:p.=
XM_024452390.1:c.135C>A XP_024308158.1:p.Cys45Ter
XR_001755695.1:n.1105C>A
NM_000444.6:c.426C>A VV MANE Preferred NP_000435.3:p.Cys142Ter
ENST00000379374.4:c.426C>A ENSP00000368682.4:p.Cys142Ter