Canonical Allele Identifier: CA412575027

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22190447G>C , CM000685.2:g.22190447G>C	GRCh38
NC_000023.10:g.22208564G>C , CM000685.1:g.22208564G>C	GRCh37
NC_000023.9:g.22118485G>C	NCBI36
NG_007563.2:g.162644G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1590G>C MANE Select	NP_000435.3:p.Trp530Cys
ENST00000379374.5:c.1590G>C MANE Select	ENSP00000368682.4:p.Trp530Cys
NM_000444.5:c.1590G>C	NP_000435.3:p.Trp530Cys
NM_001282754.1:c.1590G>C	NP_001269683.1:p.Trp530Cys
NM_001282754.2:c.1590G>C	NP_001269683.1:p.Trp530Cys
ENST00000379374.4:c.1590G>C	ENSP00000368682.4:p.Trp530Cys
ENST00000682888.1:c.144G>C	ENSP00000508003.1:p.Trp48Cys
ENST00000683162.1:c.144G>C	ENSP00000508059.1:p.Trp48Cys
ENST00000683289.1:c.144G>C	ENSP00000508195.1:p.Trp48Cys
ENST00000683917.1:n.374G>C
ENST00000684356.1:c.144G>C	ENSP00000507619.1:p.Trp48Cys
ENST00000684745.1:n.1264G>C
XM_011545533.1:c.834G>C	XP_011543835.1:p.Trp278Cys
XM_011545534.1:c.834G>C	XP_011543836.1:p.Trp278Cys
XM_011545536.1:c.483G>C	XP_011543838.1:p.Trp161Cys
XM_011545536.2:c.483G>C	XP_011543838.1:p.Trp161Cys
XM_017029579.1:c.834G>C	XP_016885068.1:p.Trp278Cys
XM_024452390.1:c.1299G>C	XP_024308158.1:p.Trp433Cys
XR_001755695.1:n.2430G>C