Canonical Allele Identifier: CA2419162000

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077697T= , CM000685.2:g.22077697T=	GRCh38
NC_000023.10:g.22095815T= , CM000685.1:g.22095815T=	GRCh37
NC_000023.9:g.22005736T=	NCBI36
NG_007563.2:g.49895T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1084T=
ENST00000683214.1:n.766T=
ENST00000684143.1:c.655T=	ENSP00000508264.1:p.Leu219=
ENST00000684745.1:n.332T=
ENST00000379374.5:c.658T= MANE Select	ENSP00000368682.4:p.Leu220=
ENST00000379374.4:c.658T=	ENSP00000368682.4:p.Leu220=
NM_000444.5:c.658T=	NP_000435.3:p.Leu220=
NM_001282754.1:c.658T=	NP_001269683.1:p.Leu220=
XM_011545535.1:c.658T=	XP_011543837.1:p.Leu220=
XM_017029579.1:c.-93-12732T=	XP_016885068.1:n.-93-12732T=
XM_024452390.1:c.367T=	XP_024308158.1:p.Leu123=
XR_001755695.1:n.1337T=
NM_000444.6:c.658T= MANE Select	NP_000435.3:p.Leu220=
NM_001282754.2:c.658T=	NP_001269683.1:p.Leu220=