Canonical Allele Identifier: CA2419209620

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221727A= , CM000685.2:g.22221727A=	GRCh38
NC_000023.10:g.22239844A= , CM000685.1:g.22239844A=	GRCh37
NC_000023.9:g.22149765A=	NCBI36
NG_007563.2:g.193924A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.437A= (PHEX)	ENSP00000508003.1:p.Lys146=
ENST00000683162.1:c.437A= (PHEX)	ENSP00000508059.1:p.Lys146=
ENST00000683289.1:c.437A= (PHEX)	ENSP00000508195.1:p.Lys146=
ENST00000683917.1:n.667A= (PHEX)
ENST00000684356.1:c.437A= (PHEX)	ENSP00000507619.1:p.Lys146=
ENST00000684745.1:n.1557A= (PHEX)
ENST00000379374.5:c.1883A= (PHEX) MANE Select	ENSP00000368682.4:p.Lys628=
ENST00000379374.4:c.1883A= (PHEX)	ENSP00000368682.4:p.Lys628=
NM_000444.5:c.1883A= (PHEX)	NP_000435.3:p.Lys628=
NM_001282754.1:c.1883A= (PHEX)	NP_001269683.1:p.Lys628=
XM_011545533.1:c.1127A= (PHEX)	XP_011543835.1:p.Lys376=
XM_011545534.1:c.1127A= (PHEX)	XP_011543836.1:p.Lys376=
XM_011545536.1:c.776A= (PHEX)	XP_011543838.1:p.Lys259=
NR_073010.2:n.1048+5743T= (PTCHD1-AS)
XM_011545536.2:c.776A= (PHEX)	XP_011543838.1:p.Lys259=
XM_017029579.1:c.1127A= (PHEX)	XP_016885068.1:p.Lys376=
XM_024452390.1:c.1592A= (PHEX)	XP_024308158.1:p.Lys531=
XR_001755695.1:n.2723A= (PHEX)
NM_000444.6:c.1883A= (PHEX) MANE Select	NP_000435.3:p.Lys628=
NM_001282754.2:c.1883A= (PHEX)	NP_001269683.1:p.Lys628=