Canonical Allele Identifier: CA10368164

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22099029G>A , CM000685.2:g.22099029G>A	GRCh38
NC_000023.10:g.22117147G>A , CM000685.1:g.22117147G>A	GRCh37
NC_000023.9:g.22027068G>A	NCBI36
NG_007563.2:g.71227G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.957G>A MANE Select	NP_000435.3:p.Lys319=
ENST00000379374.5:c.957G>A MANE Select	ENSP00000368682.4:p.Lys319=
NM_000444.5:c.957G>A	NP_000435.3:p.Lys319=
NM_001282754.1:c.957G>A	NP_001269683.1:p.Lys319=
NM_001282754.2:c.957G>A	NP_001269683.1:p.Lys319=
ENST00000379374.4:c.957G>A	ENSP00000368682.4:p.Lys319=
ENST00000475778.1:n.230G>A
ENST00000475778.2:n.1383G>A
ENST00000684143.1:c.954G>A	ENSP00000508264.1:p.Lys318=
ENST00000684745.1:n.631G>A
XM_011545533.1:c.201G>A	XP_011543835.1:p.Lys67=
XM_011545534.1:c.201G>A	XP_011543836.1:p.Lys67=
XM_011545535.1:c.957G>A	XP_011543837.1:p.Lys319=
XM_017029579.1:c.201G>A	XP_016885068.1:p.Lys67=
XM_024452390.1:c.666G>A	XP_024308158.1:p.Lys222=
XR_001755695.1:n.1636G>A