Canonical Allele Identifier: CA2419167609

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094005T= , CM000685.2:g.22094005T=	GRCh38
NC_000023.10:g.22112123T= , CM000685.1:g.22112123T=	GRCh37
NC_000023.9:g.22022044T=	NCBI36
NG_007563.2:g.66203T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.755T= MANE Select	NP_000435.3:p.Phe252=
ENST00000379374.5:c.755T= MANE Select	ENSP00000368682.4:p.Phe252=
NM_000444.5:c.755T=	NP_000435.3:p.Phe252=
NM_001282754.1:c.755T=	NP_001269683.1:p.Phe252=
NM_001282754.2:c.755T=	NP_001269683.1:p.Phe252=
ENST00000379374.4:c.755T=	ENSP00000368682.4:p.Phe252=
ENST00000475778.1:n.28T=
ENST00000475778.2:n.1181T=
ENST00000684143.1:c.752T=	ENSP00000508264.1:p.Phe251=
ENST00000684745.1:n.429T=
XM_011545533.1:c.-2T=	XP_011543835.1:n.-2T=
XM_011545534.1:c.-2T=	XP_011543836.1:n.-2T=
XM_011545535.1:c.755T=	XP_011543837.1:p.Phe252=
XM_017029579.1:c.-2T=	XP_016885068.1:n.-2T=
XM_024452390.1:c.464T=	XP_024308158.1:p.Phe155=
XR_001755695.1:n.1434T=