Canonical Allele Identifier: CA2419220699

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247942C= , CM000685.2:g.22247942C=	GRCh38
NC_000023.10:g.22266059C= , CM000685.1:g.22266059C=	GRCh37
NC_000023.9:g.22175980C=	NCBI36
NG_007563.2:g.220139C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*177C= (PHEX)	ENSP00000508059.1:n.*177C=
ENST00000683289.1:c.624+20331C= (PHEX)	ENSP00000508195.1:n.624+20331C=
ENST00000683917.1:n.1023C= (PHEX)
ENST00000684356.1:c.793C= (PHEX)	ENSP00000507619.1:p.Arg265=
ENST00000684745.1:n.1913C= (PHEX)
ENST00000379374.5:c.2239C= (PHEX) MANE Select	ENSP00000368682.4:p.Arg747=
ENST00000379374.4:c.2239C= (PHEX)	ENSP00000368682.4:p.Arg747=
NM_000444.5:c.2239C= (PHEX)	NP_000435.3:p.Arg747=
NM_001282754.1:c.*74C= (PHEX)	NP_001269683.1:n.*74C=
XM_011545533.1:c.1483C= (PHEX)	XP_011543835.1:p.Arg495=
XM_011545534.1:c.1483C= (PHEX)	XP_011543836.1:p.Arg495=
XM_011545536.1:c.1132C= (PHEX)	XP_011543838.1:p.Arg378=
XR_950533.1:n.140+5997G=
XR_950534.1:n.127+5997G=
NR_073010.2:n.850+5997G= (PTCHD1-AS)
XM_011545536.2:c.1132C= (PHEX)	XP_011543838.1:p.Arg378=
XM_017029579.1:c.1483C= (PHEX)	XP_016885068.1:p.Arg495=
XM_024452390.1:c.1948C= (PHEX)	XP_024308158.1:p.Arg650=
XR_001755695.1:n.3079C= (PHEX)
NM_000444.6:c.2239C= (PHEX) MANE Select	NP_000435.3:p.Arg747=
NM_001282754.2:c.*74C= (PHEX)	NP_001269683.1:n.*74C=