Canonical Allele Identifier: CA10367946

Gene: PHEX

Linked Data

• dbSNP Id: rs758504261
• ExAC: X:22051101 G / A
• gnomAD v2: X-22051101-G-A
• gnomAD v4: X-22032983-G-A
• MyVariant Identifiers: chrX:g.22051101G>A (hg19) ; chrX:g.22032983G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22032983G>A , CM000685.2:g.22032983G>A	GRCh38
NC_000023.10:g.22051101G>A , CM000685.1:g.22051101G>A	GRCh37
NC_000023.9:g.21961022G>A	NCBI36
NG_007563.2:g.5181G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.404G>A
ENST00000683214.1:n.404G>A
ENST00000684143.1:c.-23G>A	ENSP00000508264.1:n.-23G>A
ENST00000379374.5:c.-23G>A MANE Select	ENSP00000368682.4:n.-23G>A
ENST00000379374.4:c.-23G>A	ENSP00000368682.4:n.-23G>A
NM_000444.5:c.-23G>A	NP_000435.3:n.-23G>A
NM_001282754.1:c.-23G>A	NP_001269683.1:n.-23G>A
XM_011545535.1:c.-23G>A	XP_011543837.1:n.-23G>A
XR_001755695.1:n.657G>A
NM_000444.6:c.-23G>A MANE Select	NP_000435.3:n.-23G>A
NM_001282754.2:c.-23G>A	NP_001269683.1:n.-23G>A