Canonical Allele Identifier: CA515431161

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22266013T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247896T>C , CM000685.2:g.22247896T>C	GRCh38
NC_000023.10:g.22266013T>C , CM000685.1:g.22266013T>C	GRCh37
NC_000023.9:g.22175934T>C	NCBI36
NG_007563.2:g.220093T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*131T>C (PHEX)	ENSP00000508059.1:n.*131T>C
ENST00000683289.1:c.624+20285T>C (PHEX)	ENSP00000508195.1:n.624+20285T>C
ENST00000683917.1:n.977T>C (PHEX)
ENST00000684356.1:c.747T>C (PHEX)	ENSP00000507619.1:p.Phe249=
ENST00000684745.1:n.1867T>C (PHEX)
ENST00000379374.5:c.2193T>C (PHEX) MANE Select	ENSP00000368682.4:p.Phe731=
ENST00000379374.4:c.2193T>C (PHEX)	ENSP00000368682.4:p.Phe731=
NM_000444.5:c.2193T>C (PHEX)	NP_000435.3:p.Phe731=
NM_001282754.1:c.*28T>C (PHEX)	NP_001269683.1:n.*28T>C
XM_011545533.1:c.1437T>C (PHEX)	XP_011543835.1:p.Phe479=
XM_011545534.1:c.1437T>C (PHEX)	XP_011543836.1:p.Phe479=
XM_011545536.1:c.1086T>C (PHEX)	XP_011543838.1:p.Phe362=
XR_950533.1:n.140+6043A>G
XR_950534.1:n.127+6043A>G
NR_073010.2:n.850+6043A>G (PTCHD1-AS)
XM_011545536.2:c.1086T>C (PHEX)	XP_011543838.1:p.Phe362=
XM_017029579.1:c.1437T>C (PHEX)	XP_016885068.1:p.Phe479=
XM_024452390.1:c.1902T>C (PHEX)	XP_024308158.1:p.Phe634=
XR_001755695.1:n.3033T>C (PHEX)
NM_000444.6:c.2193T>C (PHEX) MANE Select	NP_000435.3:p.Phe731=
NM_001282754.2:c.*28T>C (PHEX)	NP_001269683.1:n.*28T>C