Canonical Allele Identifier: CA2419161968

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076435C= , CM000685.2:g.22076435C=	GRCh38
NC_000023.10:g.22094553C= , CM000685.1:g.22094553C=	GRCh37
NC_000023.9:g.22004474C=	NCBI36
NG_007563.2:g.48633C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.823C=
ENST00000683214.1:n.545-1041C=
ENST00000684143.1:c.397C=	ENSP00000508264.1:p.Gln133=
ENST00000684745.1:n.74C=
ENST00000379374.5:c.397C= MANE Select	ENSP00000368682.4:p.Gln133=
ENST00000379374.4:c.397C=	ENSP00000368682.4:p.Gln133=
NM_000444.5:c.397C=	NP_000435.3:p.Gln133=
NM_001282754.1:c.397C=	NP_001269683.1:p.Gln133=
XM_011545535.1:c.397C=	XP_011543837.1:p.Gln133=
XM_017029579.1:c.-93-13994C=	XP_016885068.1:n.-93-13994C=
XM_024452390.1:c.106C=	XP_024308158.1:p.Gln36=
XR_001755695.1:n.1076C=
NM_000444.6:c.397C= MANE Select	NP_000435.3:p.Gln133=
NM_001282754.2:c.397C=	NP_001269683.1:p.Gln133=