Canonical Allele Identifier: CA10368176

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22099098C>T , CM000685.2:g.22099098C>T	GRCh38
NC_000023.10:g.22117216C>T , CM000685.1:g.22117216C>T	GRCh37
NC_000023.9:g.22027137C>T	NCBI36
NG_007563.2:g.71296C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1026C>T MANE Select	NP_000435.3:p.Arg342=
ENST00000379374.5:c.1026C>T MANE Select	ENSP00000368682.4:p.Arg342=
NM_000444.5:c.1026C>T	NP_000435.3:p.Arg342=
NM_001282754.1:c.1026C>T	NP_001269683.1:p.Arg342=
NM_001282754.2:c.1026C>T	NP_001269683.1:p.Arg342=
ENST00000379374.4:c.1026C>T	ENSP00000368682.4:p.Arg342=
ENST00000475778.1:n.299C>T
ENST00000475778.2:n.1452C>T
ENST00000684143.1:c.1023C>T	ENSP00000508264.1:p.Arg341=
ENST00000684745.1:n.700C>T
XM_011545533.1:c.270C>T	XP_011543835.1:p.Arg90=
XM_011545534.1:c.270C>T	XP_011543836.1:p.Arg90=
XM_011545535.1:c.1026C>T	XP_011543837.1:p.Arg342=
XM_017029579.1:c.270C>T	XP_016885068.1:p.Arg90=
XM_024452390.1:c.735C>T	XP_024308158.1:p.Arg245=
XR_001755695.1:n.1705C>T