Canonical Allele Identifier: CA412575575

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1067096
• ClinVar RCV Id: RCV001378268
• dbSNP Id: rs2147217463
• MyVariant Identifiers: chrX:g.22266068T>C (hg19) ; chrX:g.22247951T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247951T>C , CM000685.2:g.22247951T>C	GRCh38
NC_000023.10:g.22266068T>C , CM000685.1:g.22266068T>C	GRCh37
NC_000023.9:g.22175989T>C	NCBI36
NG_007563.2:g.220148T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*186T>C (PHEX)	ENSP00000508059.1:n.*186T>C
ENST00000683289.1:c.624+20340T>C (PHEX)	ENSP00000508195.1:n.624+20340T>C
ENST00000683917.1:n.1032T>C (PHEX)
ENST00000684356.1:c.802T>C (PHEX)	ENSP00000507619.1:p.Ter268Gln
ENST00000684745.1:n.1922T>C (PHEX)
ENST00000379374.5:c.2248T>C (PHEX) MANE Select	ENSP00000368682.4:p.Ter750Gln
ENST00000379374.4:c.2248T>C (PHEX)	ENSP00000368682.4:p.Ter750Gln
NM_000444.5:c.2248T>C (PHEX)	NP_000435.3:p.Ter750Gln
NM_001282754.1:c.*83T>C (PHEX)	NP_001269683.1:n.*83T>C
XM_011545533.1:c.1492T>C (PHEX)	XP_011543835.1:p.Ter498Gln
XM_011545534.1:c.1492T>C (PHEX)	XP_011543836.1:p.Ter498Gln
XM_011545536.1:c.1141T>C (PHEX)	XP_011543838.1:p.Ter381Gln
XR_950533.1:n.140+5988A>G
XR_950534.1:n.127+5988A>G
NR_073010.2:n.850+5988A>G (PTCHD1-AS)
XM_011545536.2:c.1141T>C (PHEX)	XP_011543838.1:p.Ter381Gln
XM_017029579.1:c.1492T>C (PHEX)	XP_016885068.1:p.Ter498Gln
XM_024452390.1:c.1957T>C (PHEX)	XP_024308158.1:p.Ter653Gln
XR_001755695.1:n.3088T>C (PHEX)
NM_000444.6:c.2248T>C (PHEX) MANE Select	NP_000435.3:p.Ter750Gln
NM_001282754.2:c.*83T>C (PHEX)	NP_001269683.1:n.*83T>C