Canonical Allele Identifier: CA2419167635

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094080T= , CM000685.2:g.22094080T=	GRCh38
NC_000023.10:g.22112198T= , CM000685.1:g.22112198T=	GRCh37
NC_000023.9:g.22022119T=	NCBI36
NG_007563.2:g.66278T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1256T=
ENST00000684143.1:c.827T=	ENSP00000508264.1:p.Leu276=
ENST00000684745.1:n.504T=
ENST00000379374.5:c.830T= MANE Select	ENSP00000368682.4:p.Leu277=
ENST00000379374.4:c.830T=	ENSP00000368682.4:p.Leu277=
ENST00000475778.1:n.103T=
NM_000444.5:c.830T=	NP_000435.3:p.Leu277=
NM_001282754.1:c.830T=	NP_001269683.1:p.Leu277=
XM_011545533.1:c.74T=	XP_011543835.1:p.Leu25=
XM_011545534.1:c.74T=	XP_011543836.1:p.Leu25=
XM_011545535.1:c.830T=	XP_011543837.1:p.Leu277=
XM_017029579.1:c.74T=	XP_016885068.1:p.Leu25=
XM_024452390.1:c.539T=	XP_024308158.1:p.Leu180=
XR_001755695.1:n.1509T=
NM_000444.6:c.830T= MANE Select	NP_000435.3:p.Leu277=
NM_001282754.2:c.830T=	NP_001269683.1:p.Leu277=