Canonical Allele Identifier: CA2419220671

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247863A= , CM000685.2:g.22247863A=	GRCh38
NC_000023.10:g.22265980A= , CM000685.1:g.22265980A=	GRCh37
NC_000023.9:g.22175901A=	NCBI36
NG_007563.2:g.220060A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*98A= (PHEX)	ENSP00000508059.1:n.*98A=
ENST00000683289.1:c.624+20252A= (PHEX)	ENSP00000508195.1:n.624+20252A=
ENST00000683917.1:n.944A= (PHEX)
ENST00000684356.1:c.714A= (PHEX)	ENSP00000507619.1:p.Ala238=
ENST00000684745.1:n.1834A= (PHEX)
ENST00000379374.5:c.2160A= (PHEX) MANE Select	ENSP00000368682.4:p.Ala720=
ENST00000379374.4:c.2160A= (PHEX)	ENSP00000368682.4:p.Ala720=
NM_000444.5:c.2160A= (PHEX)	NP_000435.3:p.Ala720=
NM_001282754.1:c.2083A= (PHEX)	NP_001269683.1:p.Asn695=
XM_011545533.1:c.1404A= (PHEX)	XP_011543835.1:p.Ala468=
XM_011545534.1:c.1404A= (PHEX)	XP_011543836.1:p.Ala468=
XM_011545536.1:c.1053A= (PHEX)	XP_011543838.1:p.Ala351=
XR_950533.1:n.140+6076T=
XR_950534.1:n.127+6076T=
NR_073010.2:n.850+6076T= (PTCHD1-AS)
XM_011545536.2:c.1053A= (PHEX)	XP_011543838.1:p.Ala351=
XM_017029579.1:c.1404A= (PHEX)	XP_016885068.1:p.Ala468=
XM_024452390.1:c.1869A= (PHEX)	XP_024308158.1:p.Ala623=
XR_001755695.1:n.3000A= (PHEX)
NM_000444.6:c.2160A= (PHEX) MANE Select	NP_000435.3:p.Ala720=
NM_001282754.2:c.2083A= (PHEX)	NP_001269683.1:p.Asn695=