Canonical Allele Identifier: CA2419152346

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047076C= , CM000685.2:g.22047076C=	GRCh38
NC_000023.10:g.22065194C= , CM000685.1:g.22065194C=	GRCh37
NC_000023.9:g.21975115C=	NCBI36
NG_007563.2:g.19274C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.640C=
ENST00000683214.1:n.544+13953C=
ENST00000684143.1:c.214C=	ENSP00000508264.1:p.Leu72=
ENST00000379374.5:c.214C= MANE Select	ENSP00000368682.4:p.Leu72=
ENST00000379374.4:c.214C=	ENSP00000368682.4:p.Leu72=
NM_000444.5:c.214C=	NP_000435.3:p.Leu72=
NM_001282754.1:c.214C=	NP_001269683.1:p.Leu72=
XM_011545535.1:c.214C=	XP_011543837.1:p.Leu72=
XM_024452390.1:c.-78C=	XP_024308158.1:n.-78C=
XR_001755695.1:n.893C=
NM_000444.6:c.214C= MANE Select	NP_000435.3:p.Leu72=
NM_001282754.2:c.214C=	NP_001269683.1:p.Leu72=