Canonical Allele Identifier: CA16608815

Gene: PHEX

Linked Data

• ClinVar Variation Id: 381681
• ClinVar RCV Id: RCV000425906
• dbSNP Id: rs1057521144
• MyVariant Identifiers: chrX:g.22112218G>A (hg19) ; chrX:g.22094100G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094100G>A , CM000685.2:g.22094100G>A	GRCh38
NC_000023.10:g.22112218G>A , CM000685.1:g.22112218G>A	GRCh37
NC_000023.9:g.22022139G>A	NCBI36
NG_007563.2:g.66298G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1275+1G>A
ENST00000684143.1:c.846+1G>A	ENSP00000508264.1:n.846+1G>A
ENST00000684745.1:n.523+1G>A
ENST00000379374.5:c.849+1G>A MANE Select	ENSP00000368682.4:n.849+1G>A
ENST00000379374.4:c.849+1G>A	ENSP00000368682.4:n.849+1G>A
ENST00000475778.1:n.122+1G>A
NM_000444.5:c.849+1G>A	NP_000435.3:n.849+1G>A
NM_001282754.1:c.849+1G>A	NP_001269683.1:n.849+1G>A
XM_011545533.1:c.93+1G>A	XP_011543835.1:n.93+1G>A
XM_011545534.1:c.93+1G>A	XP_011543836.1:n.93+1G>A
XM_011545535.1:c.849+1G>A	XP_011543837.1:n.849+1G>A
XM_017029579.1:c.93+1G>A	XP_016885068.1:n.93+1G>A
XM_024452390.1:c.558+1G>A	XP_024308158.1:n.558+1G>A
XR_001755695.1:n.1528+1G>A
NM_000444.6:c.849+1G>A MANE Select	NP_000435.3:n.849+1G>A
NM_001282754.2:c.849+1G>A	NP_001269683.1:n.849+1G>A