Canonical Allele Identifier: CA2419167607

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094001A= , CM000685.2:g.22094001A=	GRCh38
NC_000023.10:g.22112119A= , CM000685.1:g.22112119A=	GRCh37
NC_000023.9:g.22022040A=	NCBI36
NG_007563.2:g.66199A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1177A=
ENST00000684143.1:c.748A=	ENSP00000508264.1:p.Lys250=
ENST00000684745.1:n.425A=
ENST00000379374.5:c.751A= MANE Select	ENSP00000368682.4:p.Lys251=
ENST00000379374.4:c.751A=	ENSP00000368682.4:p.Lys251=
ENST00000475778.1:n.24A=
NM_000444.5:c.751A=	NP_000435.3:p.Lys251=
NM_001282754.1:c.751A=	NP_001269683.1:p.Lys251=
XM_011545533.1:c.-6A=	XP_011543835.1:n.-6A=
XM_011545534.1:c.-6A=	XP_011543836.1:n.-6A=
XM_011545535.1:c.751A=	XP_011543837.1:p.Lys251=
XM_017029579.1:c.-6A=	XP_016885068.1:n.-6A=
XM_024452390.1:c.460A=	XP_024308158.1:p.Lys154=
XR_001755695.1:n.1430A=
NM_000444.6:c.751A= MANE Select	NP_000435.3:p.Lys251=
NM_001282754.2:c.751A=	NP_001269683.1:p.Lys251=