Canonical Allele Identifier: CA10368321
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

dbSNP Id: rs137853271
gnomAD v2: X-22231074-C-A
gnomAD v4: X-22212957-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22212957C>A , CM000685.2:g.22212957C>A GRCh38
NC_000023.10:g.22231074C>A , CM000685.1:g.22231074C>A GRCh37
NC_000023.9:g.22140995C>A NCBI36
NG_007563.2:g.185154C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.253C>A (PHEX) ENSP00000508003.1:p.Arg85=
ENST00000683162.1:c.253C>A (PHEX) ENSP00000508059.1:p.Arg85=
ENST00000683289.1:c.253C>A (PHEX) ENSP00000508195.1:p.Arg85=
ENST00000683917.1:n.483C>A (PHEX)
ENST00000684356.1:c.253C>A (PHEX) ENSP00000507619.1:p.Arg85=
ENST00000684745.1:n.1373C>A (PHEX)
ENST00000379374.5:c.1699C>A (PHEX) MANE Select ENSP00000368682.4:p.Arg567=
ENST00000379374.4:c.1699C>A (PHEX) ENSP00000368682.4:p.Arg567=
NM_000444.5:c.1699C>A (PHEX) NP_000435.3:p.Arg567=
NM_001282754.1:c.1699C>A (PHEX) NP_001269683.1:p.Arg567=
XM_011545533.1:c.943C>A (PHEX) XP_011543835.1:p.Arg315=
XM_011545534.1:c.943C>A (PHEX) XP_011543836.1:p.Arg315=
XM_011545536.1:c.592C>A (PHEX) XP_011543838.1:p.Arg198=
NR_073010.2:n.1049-10187G>T (PTCHD1-AS)
XM_011545536.2:c.592C>A (PHEX) XP_011543838.1:p.Arg198=
XM_017029579.1:c.943C>A (PHEX) XP_016885068.1:p.Arg315=
XM_024452390.1:c.1408C>A (PHEX) XP_024308158.1:p.Arg470=
XR_001755695.1:n.2539C>A (PHEX)
NM_000444.6:c.1699C>A (PHEX) MANE Select NP_000435.3:p.Arg567=
NM_001282754.2:c.1699C>A (PHEX) NP_001269683.1:p.Arg567=