Canonical Allele Identifier: CA412575465

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22266020C>A (hg19) ; chrX:g.22247903C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247903C>A , CM000685.2:g.22247903C>A	GRCh38
NC_000023.10:g.22266020C>A , CM000685.1:g.22266020C>A	GRCh37
NC_000023.9:g.22175941C>A	NCBI36
NG_007563.2:g.220100C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*138C>A (PHEX)	ENSP00000508059.1:n.*138C>A
ENST00000683289.1:c.624+20292C>A (PHEX)	ENSP00000508195.1:n.624+20292C>A
ENST00000683917.1:n.984C>A (PHEX)
ENST00000684356.1:c.754C>A (PHEX)	ENSP00000507619.1:p.Pro252Thr
ENST00000684745.1:n.1874C>A (PHEX)
ENST00000379374.5:c.2200C>A (PHEX) MANE Select	ENSP00000368682.4:p.Pro734Thr
ENST00000379374.4:c.2200C>A (PHEX)	ENSP00000368682.4:p.Pro734Thr
NM_000444.5:c.2200C>A (PHEX)	NP_000435.3:p.Pro734Thr
NM_001282754.1:c.*35C>A (PHEX)	NP_001269683.1:n.*35C>A
XM_011545533.1:c.1444C>A (PHEX)	XP_011543835.1:p.Pro482Thr
XM_011545534.1:c.1444C>A (PHEX)	XP_011543836.1:p.Pro482Thr
XM_011545536.1:c.1093C>A (PHEX)	XP_011543838.1:p.Pro365Thr
XR_950533.1:n.140+6036G>T
XR_950534.1:n.127+6036G>T
NR_073010.2:n.850+6036G>T (PTCHD1-AS)
XM_011545536.2:c.1093C>A (PHEX)	XP_011543838.1:p.Pro365Thr
XM_017029579.1:c.1444C>A (PHEX)	XP_016885068.1:p.Pro482Thr
XM_024452390.1:c.1909C>A (PHEX)	XP_024308158.1:p.Pro637Thr
XR_001755695.1:n.3040C>A (PHEX)
NM_000444.6:c.2200C>A (PHEX) MANE Select	NP_000435.3:p.Pro734Thr
NM_001282754.2:c.*35C>A (PHEX)	NP_001269683.1:n.*35C>A