Canonical Allele Identifier: CA16621328
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 420130
ClinVar RCV Id: RCV000478030
dbSNP Id: rs1064794306

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22212916G>A , CM000685.2:g.22212916G>A GRCh38
NC_000023.10:g.22231033G>A , CM000685.1:g.22231033G>A GRCh37
NC_000023.9:g.22140954G>A NCBI36
NG_007563.2:g.185113G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.212G>A (PHEX) ENSP00000508003.1:p.Gly71Glu
ENST00000683162.1:c.212G>A (PHEX) ENSP00000508059.1:p.Gly71Glu
ENST00000683289.1:c.212G>A (PHEX) ENSP00000508195.1:p.Gly71Glu
ENST00000683917.1:n.442G>A (PHEX)
ENST00000684356.1:c.212G>A (PHEX) ENSP00000507619.1:p.Gly71Glu
ENST00000684745.1:n.1332G>A (PHEX)
ENST00000379374.5:c.1658G>A (PHEX) MANE Select ENSP00000368682.4:p.Gly553Glu
ENST00000379374.4:c.1658G>A (PHEX) ENSP00000368682.4:p.Gly553Glu
NM_000444.5:c.1658G>A (PHEX) NP_000435.3:p.Gly553Glu
NM_001282754.1:c.1658G>A (PHEX) NP_001269683.1:p.Gly553Glu
XM_011545533.1:c.902G>A (PHEX) XP_011543835.1:p.Gly301Glu
XM_011545534.1:c.902G>A (PHEX) XP_011543836.1:p.Gly301Glu
XM_011545536.1:c.551G>A (PHEX) XP_011543838.1:p.Gly184Glu
NR_073010.2:n.1049-10146C>T (PTCHD1-AS)
XM_011545536.2:c.551G>A (PHEX) XP_011543838.1:p.Gly184Glu
XM_017029579.1:c.902G>A (PHEX) XP_016885068.1:p.Gly301Glu
XM_024452390.1:c.1367G>A (PHEX) XP_024308158.1:p.Gly456Glu
XR_001755695.1:n.2498G>A (PHEX)
NM_000444.6:c.1658G>A (PHEX) MANE Select NP_000435.3:p.Gly553Glu
NM_001282754.2:c.1658G>A (PHEX) NP_001269683.1:p.Gly553Glu