Canonical Allele Identifier: CA873940951

Gene: PHEX

Linked Data

• dbSNP Id: rs1188530514
• gnomAD v3: X-22046714-G-A
• gnomAD v4: X-22046714-G-A
• MyVariant Identifiers: chrX:g.22064832G>A (hg19) ; chrX:g.22046714G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22046714G>A , CM000685.2:g.22046714G>A	GRCh38
NC_000023.10:g.22064832G>A , CM000685.1:g.22064832G>A	GRCh37
NC_000023.9:g.21974753G>A	NCBI36
NG_007563.2:g.18912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.614-336G>A
ENST00000683214.1:n.544+13591G>A
ENST00000684143.1:c.188-336G>A	ENSP00000508264.1:n.188-336G>A
ENST00000379374.5:c.188-336G>A MANE Select	ENSP00000368682.4:n.188-336G>A
ENST00000379374.4:c.188-336G>A	ENSP00000368682.4:n.188-336G>A
NM_000444.5:c.188-336G>A	NP_000435.3:n.188-336G>A
NM_001282754.1:c.188-336G>A	NP_001269683.1:n.188-336G>A
XM_011545535.1:c.188-336G>A	XP_011543837.1:n.188-336G>A
XM_024452390.1:c.-104-336G>A	XP_024308158.1:n.-104-336G>A
XR_001755695.1:n.867-336G>A
NM_000444.6:c.188-336G>A MANE Select	NP_000435.3:n.188-336G>A
NM_001282754.2:c.188-336G>A	NP_001269683.1:n.188-336G>A