Canonical Allele Identifier: CA412575463

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1455303
• ClinVar RCV Id: RCV001942301
• dbSNP Id: rs2147217348
• MyVariant Identifiers: chrX:g.22266019T>A (hg19) ; chrX:g.22247902T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247902T>A , CM000685.2:g.22247902T>A	GRCh38
NC_000023.10:g.22266019T>A , CM000685.1:g.22266019T>A	GRCh37
NC_000023.9:g.22175940T>A	NCBI36
NG_007563.2:g.220099T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*137T>A (PHEX)	ENSP00000508059.1:n.*137T>A
ENST00000683289.1:c.624+20291T>A (PHEX)	ENSP00000508195.1:n.624+20291T>A
ENST00000683917.1:n.983T>A (PHEX)
ENST00000684356.1:c.753T>A (PHEX)	ENSP00000507619.1:p.Cys251Ter
ENST00000684745.1:n.1873T>A (PHEX)
ENST00000379374.5:c.2199T>A (PHEX) MANE Select	ENSP00000368682.4:p.Cys733Ter
ENST00000379374.4:c.2199T>A (PHEX)	ENSP00000368682.4:p.Cys733Ter
NM_000444.5:c.2199T>A (PHEX)	NP_000435.3:p.Cys733Ter
NM_001282754.1:c.*34T>A (PHEX)	NP_001269683.1:n.*34T>A
XM_011545533.1:c.1443T>A (PHEX)	XP_011543835.1:p.Cys481Ter
XM_011545534.1:c.1443T>A (PHEX)	XP_011543836.1:p.Cys481Ter
XM_011545536.1:c.1092T>A (PHEX)	XP_011543838.1:p.Cys364Ter
XR_950533.1:n.140+6037A>T
XR_950534.1:n.127+6037A>T
NR_073010.2:n.850+6037A>T (PTCHD1-AS)
XM_011545536.2:c.1092T>A (PHEX)	XP_011543838.1:p.Cys364Ter
XM_017029579.1:c.1443T>A (PHEX)	XP_016885068.1:p.Cys481Ter
XM_024452390.1:c.1908T>A (PHEX)	XP_024308158.1:p.Cys636Ter
XR_001755695.1:n.3039T>A (PHEX)
NM_000444.6:c.2199T>A (PHEX) MANE Select	NP_000435.3:p.Cys733Ter
NM_001282754.2:c.*34T>A (PHEX)	NP_001269683.1:n.*34T>A