Canonical Allele Identifier: CA515427452

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v4: X-22227548-G-A
• MyVariant Identifiers: chrX:g.22245665G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22227548G>A , CM000685.2:g.22227548G>A	GRCh38
NC_000023.10:g.22245665G>A , CM000685.1:g.22245665G>A	GRCh37
NC_000023.9:g.22155586G>A	NCBI36
NG_007563.2:g.199745G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.561G>A (PHEX)	ENSP00000508059.1:p.Glu187=
ENST00000683289.1:c.561G>A (PHEX)	ENSP00000508195.1:p.Glu187=
ENST00000683917.1:n.791G>A (PHEX)
ENST00000684356.1:c.561G>A (PHEX)	ENSP00000507619.1:p.Glu187=
ENST00000684745.1:n.1681G>A (PHEX)
ENST00000379374.5:c.2007G>A (PHEX) MANE Select	ENSP00000368682.4:p.Glu669=
ENST00000379374.4:c.2007G>A (PHEX)	ENSP00000368682.4:p.Glu669=
NM_000444.5:c.2007G>A (PHEX)	NP_000435.3:p.Glu669=
NM_001282754.1:c.2007G>A (PHEX)	NP_001269683.1:p.Glu669=
XM_011545533.1:c.1251G>A (PHEX)	XP_011543835.1:p.Glu417=
XM_011545534.1:c.1251G>A (PHEX)	XP_011543836.1:p.Glu417=
XM_011545536.1:c.900G>A (PHEX)	XP_011543838.1:p.Glu300=
XR_950534.1:n.247C>T
NR_073010.2:n.970C>T (PTCHD1-AS)
XM_011545536.2:c.900G>A (PHEX)	XP_011543838.1:p.Glu300=
XM_017029579.1:c.1251G>A (PHEX)	XP_016885068.1:p.Glu417=
XM_024452390.1:c.1716G>A (PHEX)	XP_024308158.1:p.Glu572=
XR_001755695.1:n.2847G>A (PHEX)
NM_000444.6:c.2007G>A (PHEX) MANE Select	NP_000435.3:p.Glu669=
NM_001282754.2:c.2007G>A (PHEX)	NP_001269683.1:p.Glu669=