Canonical Allele Identifier: CA2419220804

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22248220A= , CM000685.2:g.22248220A=	GRCh38
NC_000023.10:g.22266337A= , CM000685.1:g.22266337A=	GRCh37
NC_000023.9:g.22176258A=	NCBI36
NG_007563.2:g.220417A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*455A= (PHEX)	ENSP00000508059.1:n.*455A=
ENST00000683289.1:c.624+20609A= (PHEX)	ENSP00000508195.1:n.624+20609A=
ENST00000683917.1:n.1158+143A= (PHEX)
ENST00000684356.1:c.*267A= (PHEX)	ENSP00000507619.1:n.*267A=
ENST00000684745.1:n.2191A= (PHEX)
ENST00000379374.5:c.*267A= (PHEX) MANE Select	ENSP00000368682.4:n.*267A=
ENST00000379374.4:c.*267A= (PHEX)	ENSP00000368682.4:n.*267A=
NM_000444.5:c.*267A= (PHEX)	NP_000435.3:n.*267A=
NM_001282754.1:c.*352A= (PHEX)	NP_001269683.1:n.*352A=
XM_011545533.1:c.*267A= (PHEX)	XP_011543835.1:n.*267A=
XM_011545534.1:c.*267A= (PHEX)	XP_011543836.1:n.*267A=
XM_011545536.1:c.*267A= (PHEX)	XP_011543838.1:n.*267A=
XR_950533.1:n.140+5719T=
XR_950534.1:n.127+5719T=
NR_073010.2:n.850+5719T= (PTCHD1-AS)
XM_011545536.2:c.*267A= (PHEX)	XP_011543838.1:n.*267A=
XM_017029579.1:c.*267A= (PHEX)	XP_016885068.1:n.*267A=
XM_024452390.1:c.*267A= (PHEX)	XP_024308158.1:n.*267A=
XR_001755695.1:n.3357A= (PHEX)
NM_000444.6:c.*267A= (PHEX) MANE Select	NP_000435.3:n.*267A=
NM_001282754.2:c.*352A= (PHEX)	NP_001269683.1:n.*352A=