Canonical Allele Identifier: CA2419220692

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247928G= , CM000685.2:g.22247928G=	GRCh38
NC_000023.10:g.22266045G= , CM000685.1:g.22266045G=	GRCh37
NC_000023.9:g.22175966G=	NCBI36
NG_007563.2:g.220125G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*163G= (PHEX)	ENSP00000508059.1:n.*163G=
ENST00000683289.1:c.624+20317G= (PHEX)	ENSP00000508195.1:n.624+20317G=
ENST00000683917.1:n.1009G= (PHEX)
ENST00000684356.1:c.779G= (PHEX)	ENSP00000507619.1:p.Gly260=
ENST00000684745.1:n.1899G= (PHEX)
ENST00000379374.5:c.2225G= (PHEX) MANE Select	ENSP00000368682.4:p.Gly742=
ENST00000379374.4:c.2225G= (PHEX)	ENSP00000368682.4:p.Gly742=
NM_000444.5:c.2225G= (PHEX)	NP_000435.3:p.Gly742=
NM_001282754.1:c.*60G= (PHEX)	NP_001269683.1:n.*60G=
XM_011545533.1:c.1469G= (PHEX)	XP_011543835.1:p.Gly490=
XM_011545534.1:c.1469G= (PHEX)	XP_011543836.1:p.Gly490=
XM_011545536.1:c.1118G= (PHEX)	XP_011543838.1:p.Gly373=
XR_950533.1:n.140+6011C=
XR_950534.1:n.127+6011C=
NR_073010.2:n.850+6011C= (PTCHD1-AS)
XM_011545536.2:c.1118G= (PHEX)	XP_011543838.1:p.Gly373=
XM_017029579.1:c.1469G= (PHEX)	XP_016885068.1:p.Gly490=
XM_024452390.1:c.1934G= (PHEX)	XP_024308158.1:p.Gly645=
XR_001755695.1:n.3065G= (PHEX)
NM_000444.6:c.2225G= (PHEX) MANE Select	NP_000435.3:p.Gly742=
NM_001282754.2:c.*60G= (PHEX)	NP_001269683.1:n.*60G=