Canonical Allele Identifier: CA16608818
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 383966
ClinVar RCV Id: RCV000444535 RCV000678304
dbSNP Id: rs1057521800
MyVariant Identifiers: chrX:g.22237191A>G (hg19) chrX:g.22219074A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22219074A>G , CM000685.2:g.22219074A>G GRCh38
NC_000023.10:g.22237191A>G , CM000685.1:g.22237191A>G GRCh37
NC_000023.9:g.22147112A>G NCBI36
NG_007563.2:g.191271A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.293A>G (PHEX) ENSP00000508003.1:p.His98Arg
ENST00000683162.1:c.293A>G (PHEX) ENSP00000508059.1:p.His98Arg
ENST00000683289.1:c.293A>G (PHEX) ENSP00000508195.1:p.His98Arg
ENST00000683917.1:n.523A>G (PHEX)
ENST00000684356.1:c.293A>G (PHEX) ENSP00000507619.1:p.His98Arg
ENST00000684745.1:n.1413A>G (PHEX)
ENST00000379374.5:c.1739A>G (PHEX) MANE Select ENSP00000368682.4:p.His580Arg
ENST00000379374.4:c.1739A>G (PHEX) ENSP00000368682.4:p.His580Arg
NM_000444.5:c.1739A>G (PHEX) NP_000435.3:p.His580Arg
NM_001282754.1:c.1739A>G (PHEX) NP_001269683.1:p.His580Arg
XM_011545533.1:c.983A>G (PHEX) XP_011543835.1:p.His328Arg
XM_011545534.1:c.983A>G (PHEX) XP_011543836.1:p.His328Arg
XM_011545536.1:c.632A>G (PHEX) XP_011543838.1:p.His211Arg
NR_073010.2:n.1048+8396T>C (PTCHD1-AS)
XM_011545536.2:c.632A>G (PHEX) XP_011543838.1:p.His211Arg
XM_017029579.1:c.983A>G (PHEX) XP_016885068.1:p.His328Arg
XM_024452390.1:c.1448A>G (PHEX) XP_024308158.1:p.His483Arg
XR_001755695.1:n.2579A>G (PHEX)
NM_000444.6:c.1739A>G (PHEX) MANE Select NP_000435.3:p.His580Arg
NM_001282754.2:c.1739A>G (PHEX) NP_001269683.1:p.His580Arg
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