Canonical Allele Identifier: CA2419181308

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133538G= , CM000685.2:g.22133538G=	GRCh38
NC_000023.10:g.22151655G= , CM000685.1:g.22151655G=	GRCh37
NC_000023.9:g.22061576G=	NCBI36
NG_007563.2:g.105735G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684745.1:n.992G=
ENST00000379374.5:c.1318G= MANE Select	ENSP00000368682.4:p.Glu440=
ENST00000379374.4:c.1318G=	ENSP00000368682.4:p.Glu440=
NM_000444.5:c.1318G=	NP_000435.3:p.Glu440=
NM_001282754.1:c.1318G=	NP_001269683.1:p.Glu440=
XM_011545533.1:c.562G=	XP_011543835.1:p.Glu188=
XM_011545534.1:c.562G=	XP_011543836.1:p.Glu188=
XM_011545535.1:c.1318G=	XP_011543837.1:p.Glu440=
XM_011545536.1:c.211G=	XP_011543838.1:p.Glu71=
XM_011545536.2:c.211G=	XP_011543838.1:p.Glu71=
XM_017029579.1:c.562G=	XP_016885068.1:p.Glu188=
XM_024452390.1:c.1027G=	XP_024308158.1:p.Glu343=
XR_001755695.1:n.1997G=
NM_000444.6:c.1318G= MANE Select	NP_000435.3:p.Glu440=
NM_001282754.2:c.1318G=	NP_001269683.1:p.Glu440=