Canonical Allele Identifier: CA327522038

Gene: PHEX

Linked Data

• ClinVar Variation Id: 1239701
• ClinVar RCV Id: RCV001637665
• dbSNP Id: rs6528089
• gnomAD v2: X-22111912-G-A
• gnomAD v3: X-22093794-G-A
• gnomAD v4: X-22093794-G-A
• MyVariant Identifiers: chrX:g.22111912G>A (hg19) ; chrX:g.22093794G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093794G>A , CM000685.2:g.22093794G>A	GRCh38
NC_000023.10:g.22111912G>A , CM000685.1:g.22111912G>A	GRCh37
NC_000023.9:g.22021833G>A	NCBI36
NG_007563.2:g.65992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1159-189G>A
ENST00000684143.1:c.730-189G>A	ENSP00000508264.1:n.730-189G>A
ENST00000684745.1:n.407-189G>A
ENST00000379374.5:c.733-189G>A MANE Select	ENSP00000368682.4:n.733-189G>A
ENST00000379374.4:c.733-189G>A	ENSP00000368682.4:n.733-189G>A
ENST00000475778.1:n.6-189G>A
NM_000444.5:c.733-189G>A	NP_000435.3:n.733-189G>A
NM_001282754.1:c.733-189G>A	NP_001269683.1:n.733-189G>A
XM_011545533.1:c.-24-189G>A	XP_011543835.1:n.-24-189G>A
XM_011545534.1:c.-24-189G>A	XP_011543836.1:n.-24-189G>A
XM_011545535.1:c.733-189G>A	XP_011543837.1:n.733-189G>A
XM_017029579.1:c.-24-189G>A	XP_016885068.1:n.-24-189G>A
XM_024452390.1:c.442-189G>A	XP_024308158.1:n.442-189G>A
XR_001755695.1:n.1412-189G>A
NM_000444.6:c.733-189G>A MANE Select	NP_000435.3:n.733-189G>A
NM_001282754.2:c.733-189G>A	NP_001269683.1:n.733-189G>A