Canonical Allele Identifier: CA412575814

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 803765
• ClinVar RCV Id: RCV000990534
• dbSNP Id: rs1602402258
• gnomAD v4: X-22219085-C-T
• MyVariant Identifiers: chrX:g.22237202C>T (hg19) ; chrX:g.22219085C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22219085C>T , CM000685.2:g.22219085C>T	GRCh38
NC_000023.10:g.22237202C>T , CM000685.1:g.22237202C>T	GRCh37
NC_000023.9:g.22147123C>T	NCBI36
NG_007563.2:g.191282C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.304C>T (PHEX)	ENSP00000508003.1:p.His102Tyr
ENST00000683162.1:c.304C>T (PHEX)	ENSP00000508059.1:p.His102Tyr
ENST00000683289.1:c.304C>T (PHEX)	ENSP00000508195.1:p.His102Tyr
ENST00000683917.1:n.534C>T (PHEX)
ENST00000684356.1:c.304C>T (PHEX)	ENSP00000507619.1:p.His102Tyr
ENST00000684745.1:n.1424C>T (PHEX)
ENST00000379374.5:c.1750C>T (PHEX) MANE Select	ENSP00000368682.4:p.His584Tyr
ENST00000379374.4:c.1750C>T (PHEX)	ENSP00000368682.4:p.His584Tyr
NM_000444.5:c.1750C>T (PHEX)	NP_000435.3:p.His584Tyr
NM_001282754.1:c.1750C>T (PHEX)	NP_001269683.1:p.His584Tyr
XM_011545533.1:c.994C>T (PHEX)	XP_011543835.1:p.His332Tyr
XM_011545534.1:c.994C>T (PHEX)	XP_011543836.1:p.His332Tyr
XM_011545536.1:c.643C>T (PHEX)	XP_011543838.1:p.His215Tyr
NR_073010.2:n.1048+8385G>A (PTCHD1-AS)
XM_011545536.2:c.643C>T (PHEX)	XP_011543838.1:p.His215Tyr
XM_017029579.1:c.994C>T (PHEX)	XP_016885068.1:p.His332Tyr
XM_024452390.1:c.1459C>T (PHEX)	XP_024308158.1:p.His487Tyr
XR_001755695.1:n.2590C>T (PHEX)
NM_000444.6:c.1750C>T (PHEX) MANE Select	NP_000435.3:p.His584Tyr
NM_001282754.2:c.1750C>T (PHEX)	NP_001269683.1:p.His584Tyr