Canonical Allele Identifier: CA412575823

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 438519
• ClinVar RCV Id: RCV000505405
• dbSNP Id: rs1556135477
• MyVariant Identifiers: chrX:g.22237206G>A (hg19) ; chrX:g.22219089G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22219089G>A , CM000685.2:g.22219089G>A	GRCh38
NC_000023.10:g.22237206G>A , CM000685.1:g.22237206G>A	GRCh37
NC_000023.9:g.22147127G>A	NCBI36
NG_007563.2:g.191286G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.308G>A (PHEX)	ENSP00000508003.1:p.Gly103Glu
ENST00000683162.1:c.308G>A (PHEX)	ENSP00000508059.1:p.Gly103Glu
ENST00000683289.1:c.308G>A (PHEX)	ENSP00000508195.1:p.Gly103Glu
ENST00000683917.1:n.538G>A (PHEX)
ENST00000684356.1:c.308G>A (PHEX)	ENSP00000507619.1:p.Gly103Glu
ENST00000684745.1:n.1428G>A (PHEX)
ENST00000379374.5:c.1754G>A (PHEX) MANE Select	ENSP00000368682.4:p.Gly585Glu
ENST00000379374.4:c.1754G>A (PHEX)	ENSP00000368682.4:p.Gly585Glu
NM_000444.5:c.1754G>A (PHEX)	NP_000435.3:p.Gly585Glu
NM_001282754.1:c.1754G>A (PHEX)	NP_001269683.1:p.Gly585Glu
XM_011545533.1:c.998G>A (PHEX)	XP_011543835.1:p.Gly333Glu
XM_011545534.1:c.998G>A (PHEX)	XP_011543836.1:p.Gly333Glu
XM_011545536.1:c.647G>A (PHEX)	XP_011543838.1:p.Gly216Glu
NR_073010.2:n.1048+8381C>T (PTCHD1-AS)
XM_011545536.2:c.647G>A (PHEX)	XP_011543838.1:p.Gly216Glu
XM_017029579.1:c.998G>A (PHEX)	XP_016885068.1:p.Gly333Glu
XM_024452390.1:c.1463G>A (PHEX)	XP_024308158.1:p.Gly488Glu
XR_001755695.1:n.2594G>A (PHEX)
NM_000444.6:c.1754G>A (PHEX) MANE Select	NP_000435.3:p.Gly585Glu
NM_001282754.2:c.1754G>A (PHEX)	NP_001269683.1:p.Gly585Glu