Canonical Allele Identifier: CA412575515

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22266042G>C (hg19) ; chrX:g.22247925G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247925G>C , CM000685.2:g.22247925G>C	GRCh38
NC_000023.10:g.22266042G>C , CM000685.1:g.22266042G>C	GRCh37
NC_000023.9:g.22175963G>C	NCBI36
NG_007563.2:g.220122G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*160G>C (PHEX)	ENSP00000508059.1:n.*160G>C
ENST00000683289.1:c.624+20314G>C (PHEX)	ENSP00000508195.1:n.624+20314G>C
ENST00000683917.1:n.1006G>C (PHEX)
ENST00000684356.1:c.776G>C (PHEX)	ENSP00000507619.1:p.Arg259Thr
ENST00000684745.1:n.1896G>C (PHEX)
ENST00000379374.5:c.2222G>C (PHEX) MANE Select	ENSP00000368682.4:p.Arg741Thr
ENST00000379374.4:c.2222G>C (PHEX)	ENSP00000368682.4:p.Arg741Thr
NM_000444.5:c.2222G>C (PHEX)	NP_000435.3:p.Arg741Thr
NM_001282754.1:c.*57G>C (PHEX)	NP_001269683.1:n.*57G>C
XM_011545533.1:c.1466G>C (PHEX)	XP_011543835.1:p.Arg489Thr
XM_011545534.1:c.1466G>C (PHEX)	XP_011543836.1:p.Arg489Thr
XM_011545536.1:c.1115G>C (PHEX)	XP_011543838.1:p.Arg372Thr
XR_950533.1:n.140+6014C>G
XR_950534.1:n.127+6014C>G
NR_073010.2:n.850+6014C>G (PTCHD1-AS)
XM_011545536.2:c.1115G>C (PHEX)	XP_011543838.1:p.Arg372Thr
XM_017029579.1:c.1466G>C (PHEX)	XP_016885068.1:p.Arg489Thr
XM_024452390.1:c.1931G>C (PHEX)	XP_024308158.1:p.Arg644Thr
XR_001755695.1:n.3062G>C (PHEX)
NM_000444.6:c.2222G>C (PHEX) MANE Select	NP_000435.3:p.Arg741Thr
NM_001282754.2:c.*57G>C (PHEX)	NP_001269683.1:n.*57G>C