Canonical Allele Identifier: CA2419195569

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178289C= , CM000685.2:g.22178289C=	GRCh38
NC_000023.10:g.22196406C= , CM000685.1:g.22196406C=	GRCh37
NC_000023.9:g.22106327C=	NCBI36
NG_007563.2:g.150486C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.53C=	ENSP00000508003.1:p.Ala18=
ENST00000683162.1:c.53C=	ENSP00000508059.1:p.Ala18=
ENST00000683289.1:c.53C=	ENSP00000508195.1:p.Ala18=
ENST00000683917.1:n.283C=
ENST00000684356.1:c.53C=	ENSP00000507619.1:p.Ala18=
ENST00000684745.1:n.1173C=
ENST00000379374.5:c.1499C= MANE Select	ENSP00000368682.4:p.Ala500=
ENST00000379374.4:c.1499C=	ENSP00000368682.4:p.Ala500=
NM_000444.5:c.1499C=	NP_000435.3:p.Ala500=
NM_001282754.1:c.1499C=	NP_001269683.1:p.Ala500=
XM_011545533.1:c.743C=	XP_011543835.1:p.Ala248=
XM_011545534.1:c.743C=	XP_011543836.1:p.Ala248=
XM_011545536.1:c.392C=	XP_011543838.1:p.Ala131=
XM_011545536.2:c.392C=	XP_011543838.1:p.Ala131=
XM_017029579.1:c.743C=	XP_016885068.1:p.Ala248=
XM_024452390.1:c.1208C=	XP_024308158.1:p.Ala403=
XR_001755695.1:n.2339C=
NM_000444.6:c.1499C= MANE Select	NP_000435.3:p.Ala500=
NM_001282754.2:c.1499C=	NP_001269683.1:p.Ala500=