Canonical Allele Identifier: CA10368336

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs773291977
• ExAC: X:22237195 A / G
• gnomAD v2: X-22237195-A-G
• gnomAD v4: X-22219078-A-G
• MyVariant Identifiers: chrX:g.22237195A>G (hg19) ; chrX:g.22219078A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22219078A>G , CM000685.2:g.22219078A>G	GRCh38
NC_000023.10:g.22237195A>G , CM000685.1:g.22237195A>G	GRCh37
NC_000023.9:g.22147116A>G	NCBI36
NG_007563.2:g.191275A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.297A>G (PHEX)	ENSP00000508003.1:p.Glu99=
ENST00000683162.1:c.297A>G (PHEX)	ENSP00000508059.1:p.Glu99=
ENST00000683289.1:c.297A>G (PHEX)	ENSP00000508195.1:p.Glu99=
ENST00000683917.1:n.527A>G (PHEX)
ENST00000684356.1:c.297A>G (PHEX)	ENSP00000507619.1:p.Glu99=
ENST00000684745.1:n.1417A>G (PHEX)
ENST00000379374.5:c.1743A>G (PHEX) MANE Select	ENSP00000368682.4:p.Glu581=
ENST00000379374.4:c.1743A>G (PHEX)	ENSP00000368682.4:p.Glu581=
NM_000444.5:c.1743A>G (PHEX)	NP_000435.3:p.Glu581=
NM_001282754.1:c.1743A>G (PHEX)	NP_001269683.1:p.Glu581=
XM_011545533.1:c.987A>G (PHEX)	XP_011543835.1:p.Glu329=
XM_011545534.1:c.987A>G (PHEX)	XP_011543836.1:p.Glu329=
XM_011545536.1:c.636A>G (PHEX)	XP_011543838.1:p.Glu212=
NR_073010.2:n.1048+8392T>C (PTCHD1-AS)
XM_011545536.2:c.636A>G (PHEX)	XP_011543838.1:p.Glu212=
XM_017029579.1:c.987A>G (PHEX)	XP_016885068.1:p.Glu329=
XM_024452390.1:c.1452A>G (PHEX)	XP_024308158.1:p.Glu484=
XR_001755695.1:n.2583A>G (PHEX)
NM_000444.6:c.1743A>G (PHEX) MANE Select	NP_000435.3:p.Glu581=
NM_001282754.2:c.1743A>G (PHEX)	NP_001269683.1:p.Glu581=