Canonical Allele Identifier: CA515429851

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077702G>A , CM000685.2:g.22077702G>A	GRCh38
NC_000023.10:g.22095820G>A , CM000685.1:g.22095820G>A	GRCh37
NC_000023.9:g.22005741G>A	NCBI36
NG_007563.2:g.49900G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.663G>A MANE Select	NP_000435.3:p.Lys221=
ENST00000379374.5:c.663G>A MANE Select	ENSP00000368682.4:p.Lys221=
NM_000444.5:c.663G>A	NP_000435.3:p.Lys221=
NM_001282754.1:c.663G>A	NP_001269683.1:p.Lys221=
NM_001282754.2:c.663G>A	NP_001269683.1:p.Lys221=
ENST00000379374.4:c.663G>A	ENSP00000368682.4:p.Lys221=
ENST00000475778.2:n.1089G>A
ENST00000683214.1:n.771G>A
ENST00000684143.1:c.660G>A	ENSP00000508264.1:p.Lys220=
ENST00000684745.1:n.337G>A
XM_011545535.1:c.663G>A	XP_011543837.1:p.Lys221=
XM_017029579.1:c.-93-12727G>A	XP_016885068.1:n.-93-12727G>A
XM_024452390.1:c.372G>A	XP_024308158.1:p.Lys124=
XR_001755695.1:n.1342G>A