Canonical Allele Identifier: CA327525250

Gene: PHEX

Linked Data

• dbSNP Id: rs921572266
• gnomAD v4: X-22133538-G-A
• MyVariant Identifiers: chrX:g.22151655G>A (hg19) ; chrX:g.22133538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133538G>A , CM000685.2:g.22133538G>A	GRCh38
NC_000023.10:g.22151655G>A , CM000685.1:g.22151655G>A	GRCh37
NC_000023.9:g.22061576G>A	NCBI36
NG_007563.2:g.105735G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684745.1:n.992G>A
ENST00000379374.5:c.1318G>A MANE Select	ENSP00000368682.4:p.Glu440Lys
ENST00000379374.4:c.1318G>A	ENSP00000368682.4:p.Glu440Lys
NM_000444.5:c.1318G>A	NP_000435.3:p.Glu440Lys
NM_001282754.1:c.1318G>A	NP_001269683.1:p.Glu440Lys
XM_011545533.1:c.562G>A	XP_011543835.1:p.Glu188Lys
XM_011545534.1:c.562G>A	XP_011543836.1:p.Glu188Lys
XM_011545535.1:c.1318G>A	XP_011543837.1:p.Glu440Lys
XM_011545536.1:c.211G>A	XP_011543838.1:p.Glu71Lys
XM_011545536.2:c.211G>A	XP_011543838.1:p.Glu71Lys
XM_017029579.1:c.562G>A	XP_016885068.1:p.Glu188Lys
XM_024452390.1:c.1027G>A	XP_024308158.1:p.Glu343Lys
XR_001755695.1:n.1997G>A
NM_000444.6:c.1318G>A MANE Select	NP_000435.3:p.Glu440Lys
NM_001282754.2:c.1318G>A	NP_001269683.1:p.Glu440Lys