Canonical Allele Identifier: CA10368283

Gene: PHEX

Linked Data

• ClinVar Variation Id: 2981663
• ClinVar RCV Id: RCV003840245
• dbSNP Id: rs781248973
• ExAC: X:22196423 G / A
• gnomAD v2: X-22196423-G-A
• gnomAD v3: X-22178306-G-A
• gnomAD v4: X-22178306-G-A
• MyVariant Identifiers: chrX:g.22196423G>A (hg19) ; chrX:g.22178306G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178306G>A , CM000685.2:g.22178306G>A	GRCh38
NC_000023.10:g.22196423G>A , CM000685.1:g.22196423G>A	GRCh37
NC_000023.9:g.22106344G>A	NCBI36
NG_007563.2:g.150503G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.70G>A	ENSP00000508003.1:p.Val24Ile
ENST00000683162.1:c.70G>A	ENSP00000508059.1:p.Val24Ile
ENST00000683289.1:c.70G>A	ENSP00000508195.1:p.Val24Ile
ENST00000683917.1:n.300G>A
ENST00000684356.1:c.70G>A	ENSP00000507619.1:p.Val24Ile
ENST00000684745.1:n.1190G>A
ENST00000379374.5:c.1516G>A MANE Select	ENSP00000368682.4:p.Val506Ile
ENST00000379374.4:c.1516G>A	ENSP00000368682.4:p.Val506Ile
NM_000444.5:c.1516G>A	NP_000435.3:p.Val506Ile
NM_001282754.1:c.1516G>A	NP_001269683.1:p.Val506Ile
XM_011545533.1:c.760G>A	XP_011543835.1:p.Val254Ile
XM_011545534.1:c.760G>A	XP_011543836.1:p.Val254Ile
XM_011545536.1:c.409G>A	XP_011543838.1:p.Val137Ile
XM_011545536.2:c.409G>A	XP_011543838.1:p.Val137Ile
XM_017029579.1:c.760G>A	XP_016885068.1:p.Val254Ile
XM_024452390.1:c.1225G>A	XP_024308158.1:p.Val409Ile
XR_001755695.1:n.2356G>A
NM_000444.6:c.1516G>A MANE Select	NP_000435.3:p.Val506Ile
NM_001282754.2:c.1516G>A	NP_001269683.1:p.Val506Ile