Canonical Allele Identifier: CA2419220812

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22248258G= , CM000685.2:g.22248258G=	GRCh38
NC_000023.10:g.22266375G= , CM000685.1:g.22266375G=	GRCh37
NC_000023.9:g.22176296G=	NCBI36
NG_007563.2:g.220455G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*493G= (PHEX)	ENSP00000508059.1:n.*493G=
ENST00000683289.1:c.624+20647G= (PHEX)	ENSP00000508195.1:n.624+20647G=
ENST00000683917.1:n.1158+181G= (PHEX)
ENST00000684356.1:c.*305G= (PHEX)	ENSP00000507619.1:n.*305G=
ENST00000684745.1:n.2229G= (PHEX)
ENST00000379374.5:c.*305G= (PHEX) MANE Select	ENSP00000368682.4:n.*305G=
ENST00000379374.4:c.*305G= (PHEX)	ENSP00000368682.4:n.*305G=
NM_000444.5:c.*305G= (PHEX)	NP_000435.3:n.*305G=
NM_001282754.1:c.*390G= (PHEX)	NP_001269683.1:n.*390G=
XM_011545533.1:c.*305G= (PHEX)	XP_011543835.1:n.*305G=
XM_011545534.1:c.*305G= (PHEX)	XP_011543836.1:n.*305G=
XM_011545536.1:c.*305G= (PHEX)	XP_011543838.1:n.*305G=
XR_950533.1:n.140+5681C=
XR_950534.1:n.127+5681C=
NR_073010.2:n.850+5681C= (PTCHD1-AS)
XM_011545536.2:c.*305G= (PHEX)	XP_011543838.1:n.*305G=
XM_017029579.1:c.*305G= (PHEX)	XP_016885068.1:n.*305G=
XM_024452390.1:c.*305G= (PHEX)	XP_024308158.1:n.*305G=
XR_001755695.1:n.3395G= (PHEX)
NM_000444.6:c.*305G= (PHEX) MANE Select	NP_000435.3:n.*305G=
NM_001282754.2:c.*390G= (PHEX)	NP_001269683.1:n.*390G=