Canonical Allele Identifier: CA412575556

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1521884
• ClinVar RCV Id: RCV002034135
• dbSNP Id: rs138773278
• MyVariant Identifiers: chrX:g.22266060G>C (hg19) ; chrX:g.22247943G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247943G>C , CM000685.2:g.22247943G>C	GRCh38
NC_000023.10:g.22266060G>C , CM000685.1:g.22266060G>C	GRCh37
NC_000023.9:g.22175981G>C	NCBI36
NG_007563.2:g.220140G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*178G>C (PHEX)	ENSP00000508059.1:n.*178G>C
ENST00000683289.1:c.624+20332G>C (PHEX)	ENSP00000508195.1:n.624+20332G>C
ENST00000683917.1:n.1024G>C (PHEX)
ENST00000684356.1:c.794G>C (PHEX)	ENSP00000507619.1:p.Arg265Pro
ENST00000684745.1:n.1914G>C (PHEX)
ENST00000379374.5:c.2240G>C (PHEX) MANE Select	ENSP00000368682.4:p.Arg747Pro
ENST00000379374.4:c.2240G>C (PHEX)	ENSP00000368682.4:p.Arg747Pro
NM_000444.5:c.2240G>C (PHEX)	NP_000435.3:p.Arg747Pro
NM_001282754.1:c.*75G>C (PHEX)	NP_001269683.1:n.*75G>C
XM_011545533.1:c.1484G>C (PHEX)	XP_011543835.1:p.Arg495Pro
XM_011545534.1:c.1484G>C (PHEX)	XP_011543836.1:p.Arg495Pro
XM_011545536.1:c.1133G>C (PHEX)	XP_011543838.1:p.Arg378Pro
XR_950533.1:n.140+5996C>G
XR_950534.1:n.127+5996C>G
NR_073010.2:n.850+5996C>G (PTCHD1-AS)
XM_011545536.2:c.1133G>C (PHEX)	XP_011543838.1:p.Arg378Pro
XM_017029579.1:c.1484G>C (PHEX)	XP_016885068.1:p.Arg495Pro
XM_024452390.1:c.1949G>C (PHEX)	XP_024308158.1:p.Arg650Pro
XR_001755695.1:n.3080G>C (PHEX)
NM_000444.6:c.2240G>C (PHEX) MANE Select	NP_000435.3:p.Arg747Pro
NM_001282754.2:c.*75G>C (PHEX)	NP_001269683.1:n.*75G>C