Canonical Allele Identifier: CA2419220793

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22248175C= , CM000685.2:g.22248175C=	GRCh38
NC_000023.10:g.22266292C= , CM000685.1:g.22266292C=	GRCh37
NC_000023.9:g.22176213C=	NCBI36
NG_007563.2:g.220372C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*410C= (PHEX)	ENSP00000508059.1:n.*410C=
ENST00000683289.1:c.624+20564C= (PHEX)	ENSP00000508195.1:n.624+20564C=
ENST00000683917.1:n.1158+98C= (PHEX)
ENST00000684356.1:c.*222C= (PHEX)	ENSP00000507619.1:n.*222C=
ENST00000684745.1:n.2146C= (PHEX)
ENST00000379374.5:c.*222C= (PHEX) MANE Select	ENSP00000368682.4:n.*222C=
ENST00000379374.4:c.*222C= (PHEX)	ENSP00000368682.4:n.*222C=
NM_000444.5:c.*222C= (PHEX)	NP_000435.3:n.*222C=
NM_001282754.1:c.*307C= (PHEX)	NP_001269683.1:n.*307C=
XM_011545533.1:c.*222C= (PHEX)	XP_011543835.1:n.*222C=
XM_011545534.1:c.*222C= (PHEX)	XP_011543836.1:n.*222C=
XM_011545536.1:c.*222C= (PHEX)	XP_011543838.1:n.*222C=
XR_950533.1:n.140+5764G=
XR_950534.1:n.127+5764G=
NR_073010.2:n.850+5764G= (PTCHD1-AS)
XM_011545536.2:c.*222C= (PHEX)	XP_011543838.1:n.*222C=
XM_017029579.1:c.*222C= (PHEX)	XP_016885068.1:n.*222C=
XM_024452390.1:c.*222C= (PHEX)	XP_024308158.1:n.*222C=
XR_001755695.1:n.3312C= (PHEX)
NM_000444.6:c.*222C= (PHEX) MANE Select	NP_000435.3:n.*222C=
NM_001282754.2:c.*307C= (PHEX)	NP_001269683.1:n.*307C=