Canonical Allele Identifier: CA255559
Gene: PHEX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10817
ClinVar RCV Id: RCV000011564
dbSNP Id: rs137853269

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047116G>A , CM000685.2:g.22047116G>A GRCh38
NC_000023.10:g.22065234G>A , CM000685.1:g.22065234G>A GRCh37
NC_000023.9:g.21975155G>A NCBI36
NG_007563.2:g.19314G>A

Transcript Alleles

HGVS Amino-acid change
NM_000444.5:c.254G>A VV NP_000435.3:p.Cys85Tyr
NM_001282754.1:c.254G>A VV NP_001269683.1:p.Cys85Tyr
XM_011545535.1:c.254G>A XP_011543837.1:p.Cys85Tyr
XM_024452390.1:c.-38G>A XP_024308158.1:p.=
XR_001755695.1:n.933G>A
NM_000444.6:c.254G>A VV MANE Preferred NP_000435.3:p.Cys85Tyr
ENST00000379374.4:c.254G>A ENSP00000368682.4:p.Cys85Tyr