Canonical Allele Identifier: CA412571205

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076471G>T , CM000685.2:g.22076471G>T	GRCh38
NC_000023.10:g.22094589G>T , CM000685.1:g.22094589G>T	GRCh37
NC_000023.9:g.22004510G>T	NCBI36
NG_007563.2:g.48669G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.433G>T MANE Select	NP_000435.3:p.Glu145Ter
ENST00000379374.5:c.433G>T MANE Select	ENSP00000368682.4:p.Glu145Ter
NM_000444.5:c.433G>T	NP_000435.3:p.Glu145Ter
NM_001282754.1:c.433G>T	NP_001269683.1:p.Glu145Ter
NM_001282754.2:c.433G>T	NP_001269683.1:p.Glu145Ter
ENST00000379374.4:c.433G>T	ENSP00000368682.4:p.Glu145Ter
ENST00000475778.2:n.859G>T
ENST00000683214.1:n.545-1005G>T
ENST00000684143.1:c.433G>T	ENSP00000508264.1:p.Glu145Ter
ENST00000684745.1:n.110G>T
XM_011545535.1:c.433G>T	XP_011543837.1:p.Glu145Ter
XM_017029579.1:c.-93-13958G>T	XP_016885068.1:n.-93-13958G>T
XM_024452390.1:c.142G>T	XP_024308158.1:p.Glu48Ter
XR_001755695.1:n.1112G>T