Canonical Allele Identifier: CA327523393

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22111528C>T , CM000685.2:g.22111528C>T	GRCh38
NC_000023.10:g.22129646C>T , CM000685.1:g.22129646C>T	GRCh37
NC_000023.9:g.22039567C>T	NCBI36
NG_007563.2:g.83726C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1141C>T MANE Select	NP_000435.3:p.Arg381Cys
ENST00000379374.5:c.1141C>T MANE Select	ENSP00000368682.4:p.Arg381Cys
NM_000444.5:c.1141C>T	NP_000435.3:p.Arg381Cys
NM_001282754.1:c.1141C>T	NP_001269683.1:p.Arg381Cys
NM_001282754.2:c.1141C>T	NP_001269683.1:p.Arg381Cys
ENST00000379374.4:c.1141C>T	ENSP00000368682.4:p.Arg381Cys
ENST00000684143.1:c.1138C>T	ENSP00000508264.1:p.Arg380Cys
ENST00000684745.1:n.815C>T
XM_011545533.1:c.385C>T	XP_011543835.1:p.Arg129Cys
XM_011545534.1:c.385C>T	XP_011543836.1:p.Arg129Cys
XM_011545535.1:c.1141C>T	XP_011543837.1:p.Arg381Cys
XM_011545536.1:c.34C>T	XP_011543838.1:p.Arg12Cys
XM_011545536.2:c.34C>T	XP_011543838.1:p.Arg12Cys
XM_017029579.1:c.385C>T	XP_016885068.1:p.Arg129Cys
XM_024452390.1:c.850C>T	XP_024308158.1:p.Arg284Cys
XR_001755695.1:n.1820C>T