Canonical Allele Identifier: CA327528676

Gene: PHEX

Linked Data

• ClinVar Variation Id: 2889880
• ClinVar RCV Id: RCV003720227
• dbSNP Id: rs1045670675
• gnomAD v2: X-22196479-C-T
• gnomAD v3: X-22178362-C-T
• gnomAD v4: X-22178362-C-T
• MyVariant Identifiers: chrX:g.22196479C>T (hg19) ; chrX:g.22178362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178362C>T , CM000685.2:g.22178362C>T	GRCh38
NC_000023.10:g.22196479C>T , CM000685.1:g.22196479C>T	GRCh37
NC_000023.9:g.22106400C>T	NCBI36
NG_007563.2:g.150559C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.126C>T	ENSP00000508003.1:p.Ala42=
ENST00000683162.1:c.126C>T	ENSP00000508059.1:p.Ala42=
ENST00000683289.1:c.126C>T	ENSP00000508195.1:p.Ala42=
ENST00000683917.1:n.356C>T
ENST00000684356.1:c.126C>T	ENSP00000507619.1:p.Ala42=
ENST00000684745.1:n.1246C>T
ENST00000379374.5:c.1572C>T MANE Select	ENSP00000368682.4:p.Ala524=
ENST00000379374.4:c.1572C>T	ENSP00000368682.4:p.Ala524=
NM_000444.5:c.1572C>T	NP_000435.3:p.Ala524=
NM_001282754.1:c.1572C>T	NP_001269683.1:p.Ala524=
XM_011545533.1:c.816C>T	XP_011543835.1:p.Ala272=
XM_011545534.1:c.816C>T	XP_011543836.1:p.Ala272=
XM_011545536.1:c.465C>T	XP_011543838.1:p.Ala155=
XM_011545536.2:c.465C>T	XP_011543838.1:p.Ala155=
XM_017029579.1:c.816C>T	XP_016885068.1:p.Ala272=
XM_024452390.1:c.1281C>T	XP_024308158.1:p.Ala427=
XR_001755695.1:n.2412C>T
NM_000444.6:c.1572C>T MANE Select	NP_000435.3:p.Ala524=
NM_001282754.2:c.1572C>T	NP_001269683.1:p.Ala524=