Canonical Allele Identifier: CA16043249
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 372464
ClinVar RCV Id: RCV000414545
dbSNP Id: rs1057517798
gnomAD v4: X-22247862-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22247862C>A , CM000685.2:g.22247862C>A GRCh38
NC_000023.10:g.22265979C>A , CM000685.1:g.22265979C>A GRCh37
NC_000023.9:g.22175900C>A NCBI36
NG_007563.2:g.220059C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000683162.1:c.*97C>A (PHEX) ENSP00000508059.1:n.*97C>A
ENST00000683289.1:c.624+20251C>A (PHEX) ENSP00000508195.1:n.624+20251C>A
ENST00000683917.1:n.943C>A (PHEX)
ENST00000684356.1:c.713C>A (PHEX) ENSP00000507619.1:p.Ala238Glu
ENST00000684745.1:n.1833C>A (PHEX)
ENST00000379374.5:c.2159C>A (PHEX) MANE Select ENSP00000368682.4:p.Ala720Glu
ENST00000379374.4:c.2159C>A (PHEX) ENSP00000368682.4:p.Ala720Glu
NM_000444.5:c.2159C>A (PHEX) NP_000435.3:p.Ala720Glu
NM_001282754.1:c.2082C>A (PHEX) NP_001269683.1:p.Cys694Ter
XM_011545533.1:c.1403C>A (PHEX) XP_011543835.1:p.Ala468Glu
XM_011545534.1:c.1403C>A (PHEX) XP_011543836.1:p.Ala468Glu
XM_011545536.1:c.1052C>A (PHEX) XP_011543838.1:p.Ala351Glu
XR_950533.1:n.140+6077G>T
XR_950534.1:n.127+6077G>T
NR_073010.2:n.850+6077G>T (PTCHD1-AS)
XM_011545536.2:c.1052C>A (PHEX) XP_011543838.1:p.Ala351Glu
XM_017029579.1:c.1403C>A (PHEX) XP_016885068.1:p.Ala468Glu
XM_024452390.1:c.1868C>A (PHEX) XP_024308158.1:p.Ala623Glu
XR_001755695.1:n.2999C>A (PHEX)
NM_000444.6:c.2159C>A (PHEX) MANE Select NP_000435.3:p.Ala720Glu
NM_001282754.2:c.2082C>A (PHEX) NP_001269683.1:p.Cys694Ter