Canonical Allele Identifier: CA2419167603

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093993C= , CM000685.2:g.22093993C=	GRCh38
NC_000023.10:g.22112111C= , CM000685.1:g.22112111C=	GRCh37
NC_000023.9:g.22022032C=	NCBI36
NG_007563.2:g.66191C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1169C=
ENST00000684143.1:c.740C=	ENSP00000508264.1:p.Ala247=
ENST00000684745.1:n.417C=
ENST00000379374.5:c.743C= MANE Select	ENSP00000368682.4:p.Ala248=
ENST00000379374.4:c.743C=	ENSP00000368682.4:p.Ala248=
ENST00000475778.1:n.16C=
NM_000444.5:c.743C=	NP_000435.3:p.Ala248=
NM_001282754.1:c.743C=	NP_001269683.1:p.Ala248=
XM_011545533.1:c.-14C=	XP_011543835.1:n.-14C=
XM_011545534.1:c.-14C=	XP_011543836.1:n.-14C=
XM_011545535.1:c.743C=	XP_011543837.1:p.Ala248=
XM_017029579.1:c.-14C=	XP_016885068.1:n.-14C=
XM_024452390.1:c.452C=	XP_024308158.1:p.Ala151=
XR_001755695.1:n.1422C=
NM_000444.6:c.743C= MANE Select	NP_000435.3:p.Ala248=
NM_001282754.2:c.743C=	NP_001269683.1:p.Ala248=