Canonical Allele Identifier: CA10576256
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 226119
dbSNP Id: rs875989883

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22219070G>A , CM000685.2:g.22219070G>A GRCh38
NC_000023.10:g.22237187G>A , CM000685.1:g.22237187G>A GRCh37
NC_000023.9:g.22147108G>A NCBI36
NG_007563.2:g.191267G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379374.5:c.1735G>A MANE Select ENSP00000368682.4:p.Gly579Arg
ENST00000379374.4:c.1735G>A ENSP00000368682.4:p.Gly579Arg
NM_000444.5:c.1735G>A (PHEX) NP_000435.3:p.Gly579Arg
NM_001282754.1:c.1735G>A (PHEX) NP_001269683.1:p.Gly579Arg
XM_011545533.1:c.979G>A (PHEX) XP_011543835.1:p.Gly327Arg
XM_011545534.1:c.979G>A (PHEX) XP_011543836.1:p.Gly327Arg
XM_011545536.1:c.628G>A (PHEX) XP_011543838.1:p.Gly210Arg
NR_073010.2:n.1048+8400C>T (PTCHD1-AS)
XM_011545536.2:c.628G>A (PHEX) XP_011543838.1:p.Gly210Arg
XM_017029579.1:c.979G>A (PHEX) XP_016885068.1:p.Gly327Arg
XM_024452390.1:c.1444G>A (PHEX) XP_024308158.1:p.Gly482Arg
XR_001755695.1:n.2575G>A (PHEX)
NM_000444.6:c.1735G>A (PHEX) MANE Select NP_000435.3:p.Gly579Arg
NM_001282754.2:c.1735G>A (PHEX) NP_001269683.1:p.Gly579Arg