Canonical Allele Identifier: CA2419174828

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22114464C= , CM000685.2:g.22114464C=	GRCh38
NC_000023.10:g.22132582C= , CM000685.1:g.22132582C=	GRCh37
NC_000023.9:g.22042503C=	NCBI36
NG_007563.2:g.86662C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684143.1:c.1177C=	ENSP00000508264.1:p.Gln393=
ENST00000684745.1:n.854C=
ENST00000379374.5:c.1180C= MANE Select	ENSP00000368682.4:p.Gln394=
ENST00000379374.4:c.1180C=	ENSP00000368682.4:p.Gln394=
NM_000444.5:c.1180C=	NP_000435.3:p.Gln394=
NM_001282754.1:c.1180C=	NP_001269683.1:p.Gln394=
XM_011545533.1:c.424C=	XP_011543835.1:p.Gln142=
XM_011545534.1:c.424C=	XP_011543836.1:p.Gln142=
XM_011545535.1:c.1180C=	XP_011543837.1:p.Gln394=
XM_011545536.1:c.73C=	XP_011543838.1:p.Gln25=
XM_011545536.2:c.73C=	XP_011543838.1:p.Gln25=
XM_017029579.1:c.424C=	XP_016885068.1:p.Gln142=
XM_024452390.1:c.889C=	XP_024308158.1:p.Gln297=
XR_001755695.1:n.1859C=
NM_000444.6:c.1180C= MANE Select	NP_000435.3:p.Gln394=
NM_001282754.2:c.1180C=	NP_001269683.1:p.Gln394=