Canonical Allele Identifier: CA2419167612

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094008T= , CM000685.2:g.22094008T=	GRCh38
NC_000023.10:g.22112126T= , CM000685.1:g.22112126T=	GRCh37
NC_000023.9:g.22022047T=	NCBI36
NG_007563.2:g.66206T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1184T=
ENST00000684143.1:c.755T=	ENSP00000508264.1:p.Met252=
ENST00000684745.1:n.432T=
ENST00000379374.5:c.758T= MANE Select	ENSP00000368682.4:p.Met253=
ENST00000379374.4:c.758T=	ENSP00000368682.4:p.Met253=
ENST00000475778.1:n.31T=
NM_000444.5:c.758T=	NP_000435.3:p.Met253=
NM_001282754.1:c.758T=	NP_001269683.1:p.Met253=
XM_011545533.1:c.2T=	XP_011543835.1:p.Met1=
XM_011545534.1:c.2T=	XP_011543836.1:p.Met1=
XM_011545535.1:c.758T=	XP_011543837.1:p.Met253=
XM_017029579.1:c.2T=	XP_016885068.1:p.Met1=
XM_024452390.1:c.467T=	XP_024308158.1:p.Met156=
XR_001755695.1:n.1437T=
NM_000444.6:c.758T= MANE Select	NP_000435.3:p.Met253=
NM_001282754.2:c.758T=	NP_001269683.1:p.Met253=