Canonical Allele Identifier: CA412573387

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22114500T>C , CM000685.2:g.22114500T>C	GRCh38
NC_000023.10:g.22132618T>C , CM000685.1:g.22132618T>C	GRCh37
NC_000023.9:g.22042539T>C	NCBI36
NG_007563.2:g.86698T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1216T>C MANE Select	NP_000435.3:p.Cys406Arg
ENST00000379374.5:c.1216T>C MANE Select	ENSP00000368682.4:p.Cys406Arg
NM_000444.5:c.1216T>C	NP_000435.3:p.Cys406Arg
NM_001282754.1:c.1216T>C	NP_001269683.1:p.Cys406Arg
NM_001282754.2:c.1216T>C	NP_001269683.1:p.Cys406Arg
ENST00000379374.4:c.1216T>C	ENSP00000368682.4:p.Cys406Arg
ENST00000684143.1:c.1213T>C	ENSP00000508264.1:p.Cys405Arg
ENST00000684745.1:n.890T>C
XM_011545533.1:c.460T>C	XP_011543835.1:p.Cys154Arg
XM_011545534.1:c.460T>C	XP_011543836.1:p.Cys154Arg
XM_011545535.1:c.1216T>C	XP_011543837.1:p.Cys406Arg
XM_011545536.1:c.109T>C	XP_011543838.1:p.Cys37Arg
XM_011545536.2:c.109T>C	XP_011543838.1:p.Cys37Arg
XM_017029579.1:c.460T>C	XP_016885068.1:p.Cys154Arg
XM_024452390.1:c.925T>C	XP_024308158.1:p.Cys309Arg
XR_001755695.1:n.1895T>C