Canonical Allele Identifier: CA10368003

Gene: PHEX

Linked Data

• ClinVar Variation Id: 2068395
• ClinVar RCV Id: RCV002974798
• dbSNP Id: rs769541316
• ExAC: X:22065225 G / A
• gnomAD v2: X-22065225-G-A
• gnomAD v4: X-22047107-G-A
• MyVariant Identifiers: chrX:g.22065225G>A (hg19) ; chrX:g.22047107G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047107G>A , CM000685.2:g.22047107G>A	GRCh38
NC_000023.10:g.22065225G>A , CM000685.1:g.22065225G>A	GRCh37
NC_000023.9:g.21975146G>A	NCBI36
NG_007563.2:g.19305G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.671G>A
ENST00000683214.1:n.544+13984G>A
ENST00000684143.1:c.245G>A	ENSP00000508264.1:p.Arg82Gln
ENST00000379374.5:c.245G>A MANE Select	ENSP00000368682.4:p.Arg82Gln
ENST00000379374.4:c.245G>A	ENSP00000368682.4:p.Arg82Gln
NM_000444.5:c.245G>A	NP_000435.3:p.Arg82Gln
NM_001282754.1:c.245G>A	NP_001269683.1:p.Arg82Gln
XM_011545535.1:c.245G>A	XP_011543837.1:p.Arg82Gln
XM_024452390.1:c.-47G>A	XP_024308158.1:n.-47G>A
XR_001755695.1:n.924G>A
NM_000444.6:c.245G>A MANE Select	NP_000435.3:p.Arg82Gln
NM_001282754.2:c.245G>A	NP_001269683.1:p.Arg82Gln