Canonical Allele Identifier: CA16043251

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096976C>T , CM000685.2:g.22096976C>T	GRCh38
NC_000023.10:g.22115094C>T , CM000685.1:g.22115094C>T	GRCh37
NC_000023.9:g.22025015C>T	NCBI36
NG_007563.2:g.69174C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.871C>T MANE Select	NP_000435.3:p.Arg291Ter
ENST00000379374.5:c.871C>T MANE Select	ENSP00000368682.4:p.Arg291Ter
NM_000444.5:c.871C>T	NP_000435.3:p.Arg291Ter
NM_001282754.1:c.871C>T	NP_001269683.1:p.Arg291Ter
NM_001282754.2:c.871C>T	NP_001269683.1:p.Arg291Ter
ENST00000379374.4:c.871C>T	ENSP00000368682.4:p.Arg291Ter
ENST00000475778.1:n.144C>T
ENST00000475778.2:n.1297C>T
ENST00000684143.1:c.868C>T	ENSP00000508264.1:p.Arg290Ter
ENST00000684745.1:n.545C>T
XM_011545533.1:c.115C>T	XP_011543835.1:p.Arg39Ter
XM_011545534.1:c.115C>T	XP_011543836.1:p.Arg39Ter
XM_011545535.1:c.871C>T	XP_011543837.1:p.Arg291Ter
XM_017029579.1:c.115C>T	XP_016885068.1:p.Arg39Ter
XM_024452390.1:c.580C>T	XP_024308158.1:p.Arg194Ter
XR_001755695.1:n.1550C>T