Canonical Allele Identifier: CA412572278

Gene: PHEX

Linked Data

• gnomAD v4: X-22093995-C-A
• MyVariant Identifiers: chrX:g.22112113C>A (hg19) ; chrX:g.22093995C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093995C>A , CM000685.2:g.22093995C>A	GRCh38
NC_000023.10:g.22112113C>A , CM000685.1:g.22112113C>A	GRCh37
NC_000023.9:g.22022034C>A	NCBI36
NG_007563.2:g.66193C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1171C>A
ENST00000684143.1:c.742C>A	ENSP00000508264.1:p.Leu248Ile
ENST00000684745.1:n.419C>A
ENST00000379374.5:c.745C>A MANE Select	ENSP00000368682.4:p.Leu249Ile
ENST00000379374.4:c.745C>A	ENSP00000368682.4:p.Leu249Ile
ENST00000475778.1:n.18C>A
NM_000444.5:c.745C>A	NP_000435.3:p.Leu249Ile
NM_001282754.1:c.745C>A	NP_001269683.1:p.Leu249Ile
XM_011545533.1:c.-12C>A	XP_011543835.1:n.-12C>A
XM_011545534.1:c.-12C>A	XP_011543836.1:n.-12C>A
XM_011545535.1:c.745C>A	XP_011543837.1:p.Leu249Ile
XM_017029579.1:c.-12C>A	XP_016885068.1:n.-12C>A
XM_024452390.1:c.454C>A	XP_024308158.1:p.Leu152Ile
XR_001755695.1:n.1424C>A
NM_000444.6:c.745C>A MANE Select	NP_000435.3:p.Leu249Ile
NM_001282754.2:c.745C>A	NP_001269683.1:p.Leu249Ile