Canonical Allele Identifier: CA412572263

Gene: PHEX

Linked Data

• gnomAD v4: X-22093987-G-A
• MyVariant Identifiers: chrX:g.22112105G>A (hg19) ; chrX:g.22093987G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093987G>A , CM000685.2:g.22093987G>A	GRCh38
NC_000023.10:g.22112105G>A , CM000685.1:g.22112105G>A	GRCh37
NC_000023.9:g.22022026G>A	NCBI36
NG_007563.2:g.66185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1163G>A
ENST00000684143.1:c.734G>A	ENSP00000508264.1:p.Arg245Gln
ENST00000684745.1:n.411G>A
ENST00000379374.5:c.737G>A MANE Select	ENSP00000368682.4:p.Arg246Gln
ENST00000379374.4:c.737G>A	ENSP00000368682.4:p.Arg246Gln
ENST00000475778.1:n.10G>A
NM_000444.5:c.737G>A	NP_000435.3:p.Arg246Gln
NM_001282754.1:c.737G>A	NP_001269683.1:p.Arg246Gln
XM_011545533.1:c.-20G>A	XP_011543835.1:n.-20G>A
XM_011545534.1:c.-20G>A	XP_011543836.1:n.-20G>A
XM_011545535.1:c.737G>A	XP_011543837.1:p.Arg246Gln
XM_017029579.1:c.-20G>A	XP_016885068.1:n.-20G>A
XM_024452390.1:c.446G>A	XP_024308158.1:p.Arg149Gln
XR_001755695.1:n.1416G>A
NM_000444.6:c.737G>A MANE Select	NP_000435.3:p.Arg246Gln
NM_001282754.2:c.737G>A	NP_001269683.1:p.Arg246Gln