Canonical Allele Identifier: CA412574584

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22151665G>T (hg19) ; chrX:g.22133548G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133548G>T , CM000685.2:g.22133548G>T	GRCh38
NC_000023.10:g.22151665G>T , CM000685.1:g.22151665G>T	GRCh37
NC_000023.9:g.22061586G>T	NCBI36
NG_007563.2:g.105745G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.1002G>T
ENST00000379374.5:c.1328G>T MANE Select	ENSP00000368682.4:p.Arg443Leu
ENST00000379374.4:c.1328G>T	ENSP00000368682.4:p.Arg443Leu
NM_000444.5:c.1328G>T	NP_000435.3:p.Arg443Leu
NM_001282754.1:c.1328G>T	NP_001269683.1:p.Arg443Leu
XM_011545533.1:c.572G>T	XP_011543835.1:p.Arg191Leu
XM_011545534.1:c.572G>T	XP_011543836.1:p.Arg191Leu
XM_011545535.1:c.1328G>T	XP_011543837.1:p.Arg443Leu
XM_011545536.1:c.221G>T	XP_011543838.1:p.Arg74Leu
XM_011545536.2:c.221G>T	XP_011543838.1:p.Arg74Leu
XM_017029579.1:c.572G>T	XP_016885068.1:p.Arg191Leu
XM_024452390.1:c.1037G>T	XP_024308158.1:p.Arg346Leu
XR_001755695.1:n.2007G>T
NM_000444.6:c.1328G>T MANE Select	NP_000435.3:p.Arg443Leu
NM_001282754.2:c.1328G>T	NP_001269683.1:p.Arg443Leu