Canonical Allele Identifier: CA2419220702

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247945C= , CM000685.2:g.22247945C=	GRCh38
NC_000023.10:g.22266062C= , CM000685.1:g.22266062C=	GRCh37
NC_000023.9:g.22175983C=	NCBI36
NG_007563.2:g.220142C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*180C= (PHEX)	ENSP00000508059.1:n.*180C=
ENST00000683289.1:c.624+20334C= (PHEX)	ENSP00000508195.1:n.624+20334C=
ENST00000683917.1:n.1026C= (PHEX)
ENST00000684356.1:c.796C= (PHEX)	ENSP00000507619.1:p.Leu266=
ENST00000684745.1:n.1916C= (PHEX)
ENST00000379374.5:c.2242C= (PHEX) MANE Select	ENSP00000368682.4:p.Leu748=
ENST00000379374.4:c.2242C= (PHEX)	ENSP00000368682.4:p.Leu748=
NM_000444.5:c.2242C= (PHEX)	NP_000435.3:p.Leu748=
NM_001282754.1:c.*77C= (PHEX)	NP_001269683.1:n.*77C=
XM_011545533.1:c.1486C= (PHEX)	XP_011543835.1:p.Leu496=
XM_011545534.1:c.1486C= (PHEX)	XP_011543836.1:p.Leu496=
XM_011545536.1:c.1135C= (PHEX)	XP_011543838.1:p.Leu379=
XR_950533.1:n.140+5994G=
XR_950534.1:n.127+5994G=
NR_073010.2:n.850+5994G= (PTCHD1-AS)
XM_011545536.2:c.1135C= (PHEX)	XP_011543838.1:p.Leu379=
XM_017029579.1:c.1486C= (PHEX)	XP_016885068.1:p.Leu496=
XM_024452390.1:c.1951C= (PHEX)	XP_024308158.1:p.Leu651=
XR_001755695.1:n.3082C= (PHEX)
NM_000444.6:c.2242C= (PHEX) MANE Select	NP_000435.3:p.Leu748=
NM_001282754.2:c.*77C= (PHEX)	NP_001269683.1:n.*77C=