Canonical Allele Identifier: CA16043228

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 372465
• ClinVar RCV Id: RCV000413405
• dbSNP Id: rs1057517799
• MyVariant Identifiers: chrX:g.22266057G>T (hg19) ; chrX:g.22247940G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247940G>T , CM000685.2:g.22247940G>T	GRCh38
NC_000023.10:g.22266057G>T , CM000685.1:g.22266057G>T	GRCh37
NC_000023.9:g.22175978G>T	NCBI36
NG_007563.2:g.220137G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*175G>T (PHEX)	ENSP00000508059.1:n.*175G>T
ENST00000683289.1:c.624+20329G>T (PHEX)	ENSP00000508195.1:n.624+20329G>T
ENST00000683917.1:n.1021G>T (PHEX)
ENST00000684356.1:c.791G>T (PHEX)	ENSP00000507619.1:p.Cys264Phe
ENST00000684745.1:n.1911G>T (PHEX)
ENST00000379374.5:c.2237G>T (PHEX) MANE Select	ENSP00000368682.4:p.Cys746Phe
ENST00000379374.4:c.2237G>T (PHEX)	ENSP00000368682.4:p.Cys746Phe
NM_000444.5:c.2237G>T (PHEX)	NP_000435.3:p.Cys746Phe
NM_001282754.1:c.*72G>T (PHEX)	NP_001269683.1:n.*72G>T
XM_011545533.1:c.1481G>T (PHEX)	XP_011543835.1:p.Cys494Phe
XM_011545534.1:c.1481G>T (PHEX)	XP_011543836.1:p.Cys494Phe
XM_011545536.1:c.1130G>T (PHEX)	XP_011543838.1:p.Cys377Phe
XR_950533.1:n.140+5999C>A
XR_950534.1:n.127+5999C>A
NR_073010.2:n.850+5999C>A (PTCHD1-AS)
XM_011545536.2:c.1130G>T (PHEX)	XP_011543838.1:p.Cys377Phe
XM_017029579.1:c.1481G>T (PHEX)	XP_016885068.1:p.Cys494Phe
XM_024452390.1:c.1946G>T (PHEX)	XP_024308158.1:p.Cys649Phe
XR_001755695.1:n.3077G>T (PHEX)
NM_000444.6:c.2237G>T (PHEX) MANE Select	NP_000435.3:p.Cys746Phe
NM_001282754.2:c.*72G>T (PHEX)	NP_001269683.1:n.*72G>T