Canonical Allele Identifier: CA412574376

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22245664A>C (hg19) ; chrX:g.22227547A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22227547A>C , CM000685.2:g.22227547A>C	GRCh38
NC_000023.10:g.22245664A>C , CM000685.1:g.22245664A>C	GRCh37
NC_000023.9:g.22155585A>C	NCBI36
NG_007563.2:g.199744A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.560A>C (PHEX)	ENSP00000508059.1:p.Glu187Ala
ENST00000683289.1:c.560A>C (PHEX)	ENSP00000508195.1:p.Glu187Ala
ENST00000683917.1:n.790A>C (PHEX)
ENST00000684356.1:c.560A>C (PHEX)	ENSP00000507619.1:p.Glu187Ala
ENST00000684745.1:n.1680A>C (PHEX)
ENST00000379374.5:c.2006A>C (PHEX) MANE Select	ENSP00000368682.4:p.Glu669Ala
ENST00000379374.4:c.2006A>C (PHEX)	ENSP00000368682.4:p.Glu669Ala
NM_000444.5:c.2006A>C (PHEX)	NP_000435.3:p.Glu669Ala
NM_001282754.1:c.2006A>C (PHEX)	NP_001269683.1:p.Glu669Ala
XM_011545533.1:c.1250A>C (PHEX)	XP_011543835.1:p.Glu417Ala
XM_011545534.1:c.1250A>C (PHEX)	XP_011543836.1:p.Glu417Ala
XM_011545536.1:c.899A>C (PHEX)	XP_011543838.1:p.Glu300Ala
XR_950534.1:n.248T>G
NR_073010.2:n.971T>G (PTCHD1-AS)
XM_011545536.2:c.899A>C (PHEX)	XP_011543838.1:p.Glu300Ala
XM_017029579.1:c.1250A>C (PHEX)	XP_016885068.1:p.Glu417Ala
XM_024452390.1:c.1715A>C (PHEX)	XP_024308158.1:p.Glu572Ala
XR_001755695.1:n.2846A>C (PHEX)
NM_000444.6:c.2006A>C (PHEX) MANE Select	NP_000435.3:p.Glu669Ala
NM_001282754.2:c.2006A>C (PHEX)	NP_001269683.1:p.Glu669Ala