Canonical Allele Identifier: CA260502
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 36674
ClinVar RCV Id: RCV000030353
dbSNP Id: rs193922455

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22190446G>A , CM000685.2:g.22190446G>A GRCh38
NC_000023.10:g.22208563G>A , CM000685.1:g.22208563G>A GRCh37
NC_000023.9:g.22118484G>A NCBI36
NG_007563.2:g.162643G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379374.5:c.1589G>A MANE Select ENSP00000368682.4:p.Trp530Ter
ENST00000379374.4:c.1589G>A ENSP00000368682.4:p.Trp530Ter
NM_000444.5:c.1589G>A NP_000435.3:p.Trp530Ter
NM_001282754.1:c.1589G>A NP_001269683.1:p.Trp530Ter
XM_011545533.1:c.833G>A XP_011543835.1:p.Trp278Ter
XM_011545534.1:c.833G>A XP_011543836.1:p.Trp278Ter
XM_011545536.1:c.482G>A XP_011543838.1:p.Trp161Ter
XM_011545536.2:c.482G>A XP_011543838.1:p.Trp161Ter
XM_017029579.1:c.833G>A XP_016885068.1:p.Trp278Ter
XM_024452390.1:c.1298G>A XP_024308158.1:p.Trp433Ter
XR_001755695.1:n.2429G>A
NM_000444.6:c.1589G>A MANE Select NP_000435.3:p.Trp530Ter
NM_001282754.2:c.1589G>A NP_001269683.1:p.Trp530Ter