Canonical Allele Identifier: CA2419220700

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247943G= , CM000685.2:g.22247943G=	GRCh38
NC_000023.10:g.22266060G= , CM000685.1:g.22266060G=	GRCh37
NC_000023.9:g.22175981G=	NCBI36
NG_007563.2:g.220140G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*178G= (PHEX)	ENSP00000508059.1:n.*178G=
ENST00000683289.1:c.624+20332G= (PHEX)	ENSP00000508195.1:n.624+20332G=
ENST00000683917.1:n.1024G= (PHEX)
ENST00000684356.1:c.794G= (PHEX)	ENSP00000507619.1:p.Arg265=
ENST00000684745.1:n.1914G= (PHEX)
ENST00000379374.5:c.2240G= (PHEX) MANE Select	ENSP00000368682.4:p.Arg747=
ENST00000379374.4:c.2240G= (PHEX)	ENSP00000368682.4:p.Arg747=
NM_000444.5:c.2240G= (PHEX)	NP_000435.3:p.Arg747=
NM_001282754.1:c.*75G= (PHEX)	NP_001269683.1:n.*75G=
XM_011545533.1:c.1484G= (PHEX)	XP_011543835.1:p.Arg495=
XM_011545534.1:c.1484G= (PHEX)	XP_011543836.1:p.Arg495=
XM_011545536.1:c.1133G= (PHEX)	XP_011543838.1:p.Arg378=
XR_950533.1:n.140+5996C=
XR_950534.1:n.127+5996C=
NR_073010.2:n.850+5996C= (PTCHD1-AS)
XM_011545536.2:c.1133G= (PHEX)	XP_011543838.1:p.Arg378=
XM_017029579.1:c.1484G= (PHEX)	XP_016885068.1:p.Arg495=
XM_024452390.1:c.1949G= (PHEX)	XP_024308158.1:p.Arg650=
XR_001755695.1:n.3080G= (PHEX)
NM_000444.6:c.2240G= (PHEX) MANE Select	NP_000435.3:p.Arg747=
NM_001282754.2:c.*75G= (PHEX)	NP_001269683.1:n.*75G=