Canonical Allele Identifier: CA2419167608

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094004T= , CM000685.2:g.22094004T=	GRCh38
NC_000023.10:g.22112122T= , CM000685.1:g.22112122T=	GRCh37
NC_000023.9:g.22022043T=	NCBI36
NG_007563.2:g.66202T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1180T=
ENST00000684143.1:c.751T=	ENSP00000508264.1:p.Phe251=
ENST00000684745.1:n.428T=
ENST00000379374.5:c.754T= MANE Select	ENSP00000368682.4:p.Phe252=
ENST00000379374.4:c.754T=	ENSP00000368682.4:p.Phe252=
ENST00000475778.1:n.27T=
NM_000444.5:c.754T=	NP_000435.3:p.Phe252=
NM_001282754.1:c.754T=	NP_001269683.1:p.Phe252=
XM_011545533.1:c.-3T=	XP_011543835.1:n.-3T=
XM_011545534.1:c.-3T=	XP_011543836.1:n.-3T=
XM_011545535.1:c.754T=	XP_011543837.1:p.Phe252=
XM_017029579.1:c.-3T=	XP_016885068.1:n.-3T=
XM_024452390.1:c.463T=	XP_024308158.1:p.Phe155=
XR_001755695.1:n.1433T=
NM_000444.6:c.754T= MANE Select	NP_000435.3:p.Phe252=
NM_001282754.2:c.754T=	NP_001269683.1:p.Phe252=