Canonical Allele Identifier: CA412575408

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22265997A>C (hg19) ; chrX:g.22247880A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247880A>C , CM000685.2:g.22247880A>C	GRCh38
NC_000023.10:g.22265997A>C , CM000685.1:g.22265997A>C	GRCh37
NC_000023.9:g.22175918A>C	NCBI36
NG_007563.2:g.220077A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*115A>C (PHEX)	ENSP00000508059.1:n.*115A>C
ENST00000683289.1:c.624+20269A>C (PHEX)	ENSP00000508195.1:n.624+20269A>C
ENST00000683917.1:n.961A>C (PHEX)
ENST00000684356.1:c.731A>C (PHEX)	ENSP00000507619.1:p.Glu244Ala
ENST00000684745.1:n.1851A>C (PHEX)
ENST00000379374.5:c.2177A>C (PHEX) MANE Select	ENSP00000368682.4:p.Glu726Ala
ENST00000379374.4:c.2177A>C (PHEX)	ENSP00000368682.4:p.Glu726Ala
NM_000444.5:c.2177A>C (PHEX)	NP_000435.3:p.Glu726Ala
NM_001282754.1:c.*12A>C (PHEX)	NP_001269683.1:n.*12A>C
XM_011545533.1:c.1421A>C (PHEX)	XP_011543835.1:p.Glu474Ala
XM_011545534.1:c.1421A>C (PHEX)	XP_011543836.1:p.Glu474Ala
XM_011545536.1:c.1070A>C (PHEX)	XP_011543838.1:p.Glu357Ala
XR_950533.1:n.140+6059T>G
XR_950534.1:n.127+6059T>G
NR_073010.2:n.850+6059T>G (PTCHD1-AS)
XM_011545536.2:c.1070A>C (PHEX)	XP_011543838.1:p.Glu357Ala
XM_017029579.1:c.1421A>C (PHEX)	XP_016885068.1:p.Glu474Ala
XM_024452390.1:c.1886A>C (PHEX)	XP_024308158.1:p.Glu629Ala
XR_001755695.1:n.3017A>C (PHEX)
NM_000444.6:c.2177A>C (PHEX) MANE Select	NP_000435.3:p.Glu726Ala
NM_001282754.2:c.*12A>C (PHEX)	NP_001269683.1:n.*12A>C