Canonical Allele Identifier: CA412574381

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1338987
• ClinVar RCV Id: RCV001823441
• dbSNP Id: rs2147184646
• MyVariant Identifiers: chrX:g.22245666G>A (hg19) ; chrX:g.22227549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22227549G>A , CM000685.2:g.22227549G>A	GRCh38
NC_000023.10:g.22245666G>A , CM000685.1:g.22245666G>A	GRCh37
NC_000023.9:g.22155587G>A	NCBI36
NG_007563.2:g.199746G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.562G>A (PHEX)	ENSP00000508059.1:p.Glu188Lys
ENST00000683289.1:c.562G>A (PHEX)	ENSP00000508195.1:p.Glu188Lys
ENST00000683917.1:n.792G>A (PHEX)
ENST00000684356.1:c.562G>A (PHEX)	ENSP00000507619.1:p.Glu188Lys
ENST00000684745.1:n.1682G>A (PHEX)
ENST00000379374.5:c.2008G>A (PHEX) MANE Select	ENSP00000368682.4:p.Glu670Lys
ENST00000379374.4:c.2008G>A (PHEX)	ENSP00000368682.4:p.Glu670Lys
NM_000444.5:c.2008G>A (PHEX)	NP_000435.3:p.Glu670Lys
NM_001282754.1:c.2008G>A (PHEX)	NP_001269683.1:p.Glu670Lys
XM_011545533.1:c.1252G>A (PHEX)	XP_011543835.1:p.Glu418Lys
XM_011545534.1:c.1252G>A (PHEX)	XP_011543836.1:p.Glu418Lys
XM_011545536.1:c.901G>A (PHEX)	XP_011543838.1:p.Glu301Lys
XR_950534.1:n.246C>T
NR_073010.2:n.969C>T (PTCHD1-AS)
XM_011545536.2:c.901G>A (PHEX)	XP_011543838.1:p.Glu301Lys
XM_017029579.1:c.1252G>A (PHEX)	XP_016885068.1:p.Glu418Lys
XM_024452390.1:c.1717G>A (PHEX)	XP_024308158.1:p.Glu573Lys
XR_001755695.1:n.2848G>A (PHEX)
NM_000444.6:c.2008G>A (PHEX) MANE Select	NP_000435.3:p.Glu670Lys
NM_001282754.2:c.2008G>A (PHEX)	NP_001269683.1:p.Glu670Lys