Canonical Allele Identifier: CA16043220

Gene: PHEX

Linked Data

• ClinVar Variation Id: 372450
• ClinVar RCV Id: RCV000414040
• dbSNP Id: rs1057517787
• gnomAD v4: X-22076464-C-A
• MyVariant Identifiers: chrX:g.22094582C>A (hg19) ; chrX:g.22076464C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076464C>A , CM000685.2:g.22076464C>A	GRCh38
NC_000023.10:g.22094582C>A , CM000685.1:g.22094582C>A	GRCh37
NC_000023.9:g.22004503C>A	NCBI36
NG_007563.2:g.48662C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.852C>A
ENST00000683214.1:n.545-1012C>A
ENST00000684143.1:c.426C>A	ENSP00000508264.1:p.Cys142Ter
ENST00000684745.1:n.103C>A
ENST00000379374.5:c.426C>A MANE Select	ENSP00000368682.4:p.Cys142Ter
ENST00000379374.4:c.426C>A	ENSP00000368682.4:p.Cys142Ter
NM_000444.5:c.426C>A	NP_000435.3:p.Cys142Ter
NM_001282754.1:c.426C>A	NP_001269683.1:p.Cys142Ter
XM_011545535.1:c.426C>A	XP_011543837.1:p.Cys142Ter
XM_017029579.1:c.-93-13965C>A	XP_016885068.1:n.-93-13965C>A
XM_024452390.1:c.135C>A	XP_024308158.1:p.Cys45Ter
XR_001755695.1:n.1105C>A
NM_000444.6:c.426C>A MANE Select	NP_000435.3:p.Cys142Ter
NM_001282754.2:c.426C>A	NP_001269683.1:p.Cys142Ter