Canonical Allele Identifier: CA412574875

Gene: PHEX

Linked Data

• gnomAD v4: X-22178318-C-A
• MyVariant Identifiers: chrX:g.22196435C>A (hg19) ; chrX:g.22178318C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178318C>A , CM000685.2:g.22178318C>A	GRCh38
NC_000023.10:g.22196435C>A , CM000685.1:g.22196435C>A	GRCh37
NC_000023.9:g.22106356C>A	NCBI36
NG_007563.2:g.150515C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.82C>A	ENSP00000508003.1:p.Arg28Ser
ENST00000683162.1:c.82C>A	ENSP00000508059.1:p.Arg28Ser
ENST00000683289.1:c.82C>A	ENSP00000508195.1:p.Arg28Ser
ENST00000683917.1:n.312C>A
ENST00000684356.1:c.82C>A	ENSP00000507619.1:p.Arg28Ser
ENST00000684745.1:n.1202C>A
ENST00000379374.5:c.1528C>A MANE Select	ENSP00000368682.4:p.Arg510Ser
ENST00000379374.4:c.1528C>A	ENSP00000368682.4:p.Arg510Ser
NM_000444.5:c.1528C>A	NP_000435.3:p.Arg510Ser
NM_001282754.1:c.1528C>A	NP_001269683.1:p.Arg510Ser
XM_011545533.1:c.772C>A	XP_011543835.1:p.Arg258Ser
XM_011545534.1:c.772C>A	XP_011543836.1:p.Arg258Ser
XM_011545536.1:c.421C>A	XP_011543838.1:p.Arg141Ser
XM_011545536.2:c.421C>A	XP_011543838.1:p.Arg141Ser
XM_017029579.1:c.772C>A	XP_016885068.1:p.Arg258Ser
XM_024452390.1:c.1237C>A	XP_024308158.1:p.Arg413Ser
XR_001755695.1:n.2368C>A
NM_000444.6:c.1528C>A MANE Select	NP_000435.3:p.Arg510Ser
NM_001282754.2:c.1528C>A	NP_001269683.1:p.Arg510Ser