Canonical Allele Identifier: CA515425111
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.22239732A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22221615A>C , CM000685.2:g.22221615A>C GRCh38
NC_000023.10:g.22239732A>C , CM000685.1:g.22239732A>C GRCh37
NC_000023.9:g.22149653A>C NCBI36
NG_007563.2:g.193812A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.325A>C (PHEX) ENSP00000508003.1:p.Arg109=
ENST00000683162.1:c.325A>C (PHEX) ENSP00000508059.1:p.Arg109=
ENST00000683289.1:c.325A>C (PHEX) ENSP00000508195.1:p.Arg109=
ENST00000683917.1:n.555A>C (PHEX)
ENST00000684356.1:c.325A>C (PHEX) ENSP00000507619.1:p.Arg109=
ENST00000684745.1:n.1445A>C (PHEX)
ENST00000379374.5:c.1771A>C (PHEX) MANE Select ENSP00000368682.4:p.Arg591=
ENST00000379374.4:c.1771A>C (PHEX) ENSP00000368682.4:p.Arg591=
NM_000444.5:c.1771A>C (PHEX) NP_000435.3:p.Arg591=
NM_001282754.1:c.1771A>C (PHEX) NP_001269683.1:p.Arg591=
XM_011545533.1:c.1015A>C (PHEX) XP_011543835.1:p.Arg339=
XM_011545534.1:c.1015A>C (PHEX) XP_011543836.1:p.Arg339=
XM_011545536.1:c.664A>C (PHEX) XP_011543838.1:p.Arg222=
NR_073010.2:n.1048+5855T>G (PTCHD1-AS)
XM_011545536.2:c.664A>C (PHEX) XP_011543838.1:p.Arg222=
XM_017029579.1:c.1015A>C (PHEX) XP_016885068.1:p.Arg339=
XM_024452390.1:c.1480A>C (PHEX) XP_024308158.1:p.Arg494=
XR_001755695.1:n.2611A>C (PHEX)
NM_000444.6:c.1771A>C (PHEX) MANE Select NP_000435.3:p.Arg591=
NM_001282754.2:c.1771A>C (PHEX) NP_001269683.1:p.Arg591=