Canonical Allele Identifier: CA2419199227

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22190452C= , CM000685.2:g.22190452C=	GRCh38
NC_000023.10:g.22208569C= , CM000685.1:g.22208569C=	GRCh37
NC_000023.9:g.22118490C=	NCBI36
NG_007563.2:g.162649C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.149C=	ENSP00000508003.1:p.Thr50=
ENST00000683162.1:c.149C=	ENSP00000508059.1:p.Thr50=
ENST00000683289.1:c.149C=	ENSP00000508195.1:p.Thr50=
ENST00000683917.1:n.379C=
ENST00000684356.1:c.149C=	ENSP00000507619.1:p.Thr50=
ENST00000684745.1:n.1269C=
ENST00000379374.5:c.1595C= MANE Select	ENSP00000368682.4:p.Thr532=
ENST00000379374.4:c.1595C=	ENSP00000368682.4:p.Thr532=
NM_000444.5:c.1595C=	NP_000435.3:p.Thr532=
NM_001282754.1:c.1595C=	NP_001269683.1:p.Thr532=
XM_011545533.1:c.839C=	XP_011543835.1:p.Thr280=
XM_011545534.1:c.839C=	XP_011543836.1:p.Thr280=
XM_011545536.1:c.488C=	XP_011543838.1:p.Thr163=
XM_011545536.2:c.488C=	XP_011543838.1:p.Thr163=
XM_017029579.1:c.839C=	XP_016885068.1:p.Thr280=
XM_024452390.1:c.1304C=	XP_024308158.1:p.Thr435=
XR_001755695.1:n.2435C=
NM_000444.6:c.1595C= MANE Select	NP_000435.3:p.Thr532=
NM_001282754.2:c.1595C=	NP_001269683.1:p.Thr532=