Canonical Allele Identifier: CA515427449

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v4: X-22227542-A-G
• MyVariant Identifiers: chrX:g.22245659A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22227542A>G , CM000685.2:g.22227542A>G	GRCh38
NC_000023.10:g.22245659A>G , CM000685.1:g.22245659A>G	GRCh37
NC_000023.9:g.22155580A>G	NCBI36
NG_007563.2:g.199739A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.555A>G (PHEX)	ENSP00000508059.1:p.Gly185=
ENST00000683289.1:c.555A>G (PHEX)	ENSP00000508195.1:p.Gly185=
ENST00000683917.1:n.785A>G (PHEX)
ENST00000684356.1:c.555A>G (PHEX)	ENSP00000507619.1:p.Gly185=
ENST00000684745.1:n.1675A>G (PHEX)
ENST00000379374.5:c.2001A>G (PHEX) MANE Select	ENSP00000368682.4:p.Gly667=
ENST00000379374.4:c.2001A>G (PHEX)	ENSP00000368682.4:p.Gly667=
NM_000444.5:c.2001A>G (PHEX)	NP_000435.3:p.Gly667=
NM_001282754.1:c.2001A>G (PHEX)	NP_001269683.1:p.Gly667=
XM_011545533.1:c.1245A>G (PHEX)	XP_011543835.1:p.Gly415=
XM_011545534.1:c.1245A>G (PHEX)	XP_011543836.1:p.Gly415=
XM_011545536.1:c.894A>G (PHEX)	XP_011543838.1:p.Gly298=
XR_950534.1:n.253T>C
NR_073010.2:n.976T>C (PTCHD1-AS)
XM_011545536.2:c.894A>G (PHEX)	XP_011543838.1:p.Gly298=
XM_017029579.1:c.1245A>G (PHEX)	XP_016885068.1:p.Gly415=
XM_024452390.1:c.1710A>G (PHEX)	XP_024308158.1:p.Gly570=
XR_001755695.1:n.2841A>G (PHEX)
NM_000444.6:c.2001A>G (PHEX) MANE Select	NP_000435.3:p.Gly667=
NM_001282754.2:c.2001A>G (PHEX)	NP_001269683.1:p.Gly667=