Canonical Allele Identifier: CA412573248

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22111544G>A , CM000685.2:g.22111544G>A	GRCh38
NC_000023.10:g.22129662G>A , CM000685.1:g.22129662G>A	GRCh37
NC_000023.9:g.22039583G>A	NCBI36
NG_007563.2:g.83742G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1157G>A MANE Select	NP_000435.3:p.Trp386Ter
ENST00000379374.5:c.1157G>A MANE Select	ENSP00000368682.4:p.Trp386Ter
NM_000444.5:c.1157G>A	NP_000435.3:p.Trp386Ter
NM_001282754.1:c.1157G>A	NP_001269683.1:p.Trp386Ter
NM_001282754.2:c.1157G>A	NP_001269683.1:p.Trp386Ter
ENST00000379374.4:c.1157G>A	ENSP00000368682.4:p.Trp386Ter
ENST00000684143.1:c.1154G>A	ENSP00000508264.1:p.Trp385Ter
ENST00000684745.1:n.831G>A
XM_011545533.1:c.401G>A	XP_011543835.1:p.Trp134Ter
XM_011545534.1:c.401G>A	XP_011543836.1:p.Trp134Ter
XM_011545535.1:c.1157G>A	XP_011543837.1:p.Trp386Ter
XM_011545536.1:c.50G>A	XP_011543838.1:p.Trp17Ter
XM_011545536.2:c.50G>A	XP_011543838.1:p.Trp17Ter
XM_017029579.1:c.401G>A	XP_016885068.1:p.Trp134Ter
XM_024452390.1:c.866G>A	XP_024308158.1:p.Trp289Ter
XR_001755695.1:n.1836G>A