Canonical Allele Identifier: CA515428769

Gene: PHEX

Linked Data

• gnomAD v4: X-22076473-G-A
• MyVariant Identifiers: chrX:g.22094591G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076473G>A , CM000685.2:g.22076473G>A	GRCh38
NC_000023.10:g.22094591G>A , CM000685.1:g.22094591G>A	GRCh37
NC_000023.9:g.22004512G>A	NCBI36
NG_007563.2:g.48671G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.861G>A
ENST00000683214.1:n.545-1003G>A
ENST00000684143.1:c.435G>A	ENSP00000508264.1:p.Glu145=
ENST00000684745.1:n.112G>A
ENST00000379374.5:c.435G>A MANE Select	ENSP00000368682.4:p.Glu145=
ENST00000379374.4:c.435G>A	ENSP00000368682.4:p.Glu145=
NM_000444.5:c.435G>A	NP_000435.3:p.Glu145=
NM_001282754.1:c.435G>A	NP_001269683.1:p.Glu145=
XM_011545535.1:c.435G>A	XP_011543837.1:p.Glu145=
XM_017029579.1:c.-93-13956G>A	XP_016885068.1:n.-93-13956G>A
XM_024452390.1:c.144G>A	XP_024308158.1:p.Glu48=
XR_001755695.1:n.1114G>A
NM_000444.6:c.435G>A MANE Select	NP_000435.3:p.Glu145=
NM_001282754.2:c.435G>A	NP_001269683.1:p.Glu145=