Canonical Allele Identifier: CA2419209597

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221674G= , CM000685.2:g.22221674G=	GRCh38
NC_000023.10:g.22239791G= , CM000685.1:g.22239791G=	GRCh37
NC_000023.9:g.22149712G=	NCBI36
NG_007563.2:g.193871G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.384G= (PHEX)	ENSP00000508003.1:p.Lys128=
ENST00000683162.1:c.384G= (PHEX)	ENSP00000508059.1:p.Lys128=
ENST00000683289.1:c.384G= (PHEX)	ENSP00000508195.1:p.Lys128=
ENST00000683917.1:n.614G= (PHEX)
ENST00000684356.1:c.384G= (PHEX)	ENSP00000507619.1:p.Lys128=
ENST00000684745.1:n.1504G= (PHEX)
ENST00000379374.5:c.1830G= (PHEX) MANE Select	ENSP00000368682.4:p.Lys610=
ENST00000379374.4:c.1830G= (PHEX)	ENSP00000368682.4:p.Lys610=
NM_000444.5:c.1830G= (PHEX)	NP_000435.3:p.Lys610=
NM_001282754.1:c.1830G= (PHEX)	NP_001269683.1:p.Lys610=
XM_011545533.1:c.1074G= (PHEX)	XP_011543835.1:p.Lys358=
XM_011545534.1:c.1074G= (PHEX)	XP_011543836.1:p.Lys358=
XM_011545536.1:c.723G= (PHEX)	XP_011543838.1:p.Lys241=
NR_073010.2:n.1048+5796C= (PTCHD1-AS)
XM_011545536.2:c.723G= (PHEX)	XP_011543838.1:p.Lys241=
XM_017029579.1:c.1074G= (PHEX)	XP_016885068.1:p.Lys358=
XM_024452390.1:c.1539G= (PHEX)	XP_024308158.1:p.Lys513=
XR_001755695.1:n.2670G= (PHEX)
NM_000444.6:c.1830G= (PHEX) MANE Select	NP_000435.3:p.Lys610=
NM_001282754.2:c.1830G= (PHEX)	NP_001269683.1:p.Lys610=