Canonical Allele Identifier: CA327525253

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133579A>C , CM000685.2:g.22133579A>C	GRCh38
NC_000023.10:g.22151696A>C , CM000685.1:g.22151696A>C	GRCh37
NC_000023.9:g.22061617A>C	NCBI36
NG_007563.2:g.105776A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1359A>C MANE Select	NP_000435.3:p.Glu453Asp
ENST00000379374.5:c.1359A>C MANE Select	ENSP00000368682.4:p.Glu453Asp
NM_000444.5:c.1359A>C	NP_000435.3:p.Glu453Asp
NM_001282754.1:c.1359A>C	NP_001269683.1:p.Glu453Asp
NM_001282754.2:c.1359A>C	NP_001269683.1:p.Glu453Asp
ENST00000379374.4:c.1359A>C	ENSP00000368682.4:p.Glu453Asp
ENST00000684745.1:n.1033A>C
XM_011545533.1:c.603A>C	XP_011543835.1:p.Glu201Asp
XM_011545534.1:c.603A>C	XP_011543836.1:p.Glu201Asp
XM_011545535.1:c.1359A>C	XP_011543837.1:p.Glu453Asp
XM_011545536.1:c.252A>C	XP_011543838.1:p.Glu84Asp
XM_011545536.2:c.252A>C	XP_011543838.1:p.Glu84Asp
XM_017029579.1:c.603A>C	XP_016885068.1:p.Glu201Asp
XM_024452390.1:c.1068A>C	XP_024308158.1:p.Glu356Asp
XR_001755695.1:n.2038A>C