Canonical Allele Identifier: CA412574586

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22151667T>C (hg19) ; chrX:g.22133550T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133550T>C , CM000685.2:g.22133550T>C	GRCh38
NC_000023.10:g.22151667T>C , CM000685.1:g.22151667T>C	GRCh37
NC_000023.9:g.22061588T>C	NCBI36
NG_007563.2:g.105747T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684745.1:n.1004T>C
ENST00000379374.5:c.1330T>C MANE Select	ENSP00000368682.4:p.Trp444Arg
ENST00000379374.4:c.1330T>C	ENSP00000368682.4:p.Trp444Arg
NM_000444.5:c.1330T>C	NP_000435.3:p.Trp444Arg
NM_001282754.1:c.1330T>C	NP_001269683.1:p.Trp444Arg
XM_011545533.1:c.574T>C	XP_011543835.1:p.Trp192Arg
XM_011545534.1:c.574T>C	XP_011543836.1:p.Trp192Arg
XM_011545535.1:c.1330T>C	XP_011543837.1:p.Trp444Arg
XM_011545536.1:c.223T>C	XP_011543838.1:p.Trp75Arg
XM_011545536.2:c.223T>C	XP_011543838.1:p.Trp75Arg
XM_017029579.1:c.574T>C	XP_016885068.1:p.Trp192Arg
XM_024452390.1:c.1039T>C	XP_024308158.1:p.Trp347Arg
XR_001755695.1:n.2009T>C
NM_000444.6:c.1330T>C MANE Select	NP_000435.3:p.Trp444Arg
NM_001282754.2:c.1330T>C	NP_001269683.1:p.Trp444Arg