Canonical Allele Identifier: CA412573786

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22114581G>T , CM000685.2:g.22114581G>T	GRCh38
NC_000023.10:g.22132699G>T , CM000685.1:g.22132699G>T	GRCh37
NC_000023.9:g.22042620G>T	NCBI36
NG_007563.2:g.86779G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1297G>T MANE Select	NP_000435.3:p.Glu433Ter
ENST00000379374.5:c.1297G>T MANE Select	ENSP00000368682.4:p.Glu433Ter
NM_000444.5:c.1297G>T	NP_000435.3:p.Glu433Ter
NM_001282754.1:c.1297G>T	NP_001269683.1:p.Glu433Ter
NM_001282754.2:c.1297G>T	NP_001269683.1:p.Glu433Ter
ENST00000379374.4:c.1297G>T	ENSP00000368682.4:p.Glu433Ter
ENST00000684745.1:n.971G>T
XM_011545533.1:c.541G>T	XP_011543835.1:p.Glu181Ter
XM_011545534.1:c.541G>T	XP_011543836.1:p.Glu181Ter
XM_011545535.1:c.1297G>T	XP_011543837.1:p.Glu433Ter
XM_011545536.1:c.190G>T	XP_011543838.1:p.Glu64Ter
XM_011545536.2:c.190G>T	XP_011543838.1:p.Glu64Ter
XM_017029579.1:c.541G>T	XP_016885068.1:p.Glu181Ter
XM_024452390.1:c.1006G>T	XP_024308158.1:p.Glu336Ter
XR_001755695.1:n.1976G>T