Canonical Allele Identifier: CA2419181306

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133533T= , CM000685.2:g.22133533T=	GRCh38
NC_000023.10:g.22151650T= , CM000685.1:g.22151650T=	GRCh37
NC_000023.9:g.22061571T=	NCBI36
NG_007563.2:g.105730T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.987T=
ENST00000379374.5:c.1313T= MANE Select	ENSP00000368682.4:p.Leu438=
ENST00000379374.4:c.1313T=	ENSP00000368682.4:p.Leu438=
NM_000444.5:c.1313T=	NP_000435.3:p.Leu438=
NM_001282754.1:c.1313T=	NP_001269683.1:p.Leu438=
XM_011545533.1:c.557T=	XP_011543835.1:p.Leu186=
XM_011545534.1:c.557T=	XP_011543836.1:p.Leu186=
XM_011545535.1:c.1313T=	XP_011543837.1:p.Leu438=
XM_011545536.1:c.206T=	XP_011543838.1:p.Leu69=
XM_011545536.2:c.206T=	XP_011543838.1:p.Leu69=
XM_017029579.1:c.557T=	XP_016885068.1:p.Leu186=
XM_024452390.1:c.1022T=	XP_024308158.1:p.Leu341=
XR_001755695.1:n.1992T=
NM_000444.6:c.1313T= MANE Select	NP_000435.3:p.Leu438=
NM_001282754.2:c.1313T=	NP_001269683.1:p.Leu438=