Canonical Allele Identifier: CA412575713

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 438568
• ClinVar RCV Id: RCV000505466
• dbSNP Id: rs1556128253
• MyVariant Identifiers: chrX:g.22231077T>C (hg19) ; chrX:g.22212960T>C (hg38)
• PubMed: PMID:9199930

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22212960T>C , CM000685.2:g.22212960T>C	GRCh38
NC_000023.10:g.22231077T>C , CM000685.1:g.22231077T>C	GRCh37
NC_000023.9:g.22140998T>C	NCBI36
NG_007563.2:g.185157T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.254+2T>C (PHEX)	ENSP00000508003.1:n.254+2T>C
ENST00000683162.1:c.254+2T>C (PHEX)	ENSP00000508059.1:n.254+2T>C
ENST00000683289.1:c.254+2T>C (PHEX)	ENSP00000508195.1:n.254+2T>C
ENST00000683917.1:n.484+2T>C (PHEX)
ENST00000684356.1:c.254+2T>C (PHEX)	ENSP00000507619.1:n.254+2T>C
ENST00000684745.1:n.1374+2T>C (PHEX)
ENST00000379374.5:c.1700+2T>C (PHEX) MANE Select	ENSP00000368682.4:n.1700+2T>C
ENST00000379374.4:c.1700+2T>C (PHEX)	ENSP00000368682.4:n.1700+2T>C
NM_000444.5:c.1700+2T>C (PHEX)	NP_000435.3:n.1700+2T>C
NM_001282754.1:c.1700+2T>C (PHEX)	NP_001269683.1:n.1700+2T>C
XM_011545533.1:c.944+2T>C (PHEX)	XP_011543835.1:n.944+2T>C
XM_011545534.1:c.944+2T>C (PHEX)	XP_011543836.1:n.944+2T>C
XM_011545536.1:c.593+2T>C (PHEX)	XP_011543838.1:n.593+2T>C
NR_073010.2:n.1049-10190A>G (PTCHD1-AS)
XM_011545536.2:c.593+2T>C (PHEX)	XP_011543838.1:n.593+2T>C
XM_017029579.1:c.944+2T>C (PHEX)	XP_016885068.1:n.944+2T>C
XM_024452390.1:c.1409+2T>C (PHEX)	XP_024308158.1:n.1409+2T>C
XR_001755695.1:n.2540+2T>C (PHEX)
NM_000444.6:c.1700+2T>C (PHEX) MANE Select	NP_000435.3:n.1700+2T>C
NM_001282754.2:c.1700+2T>C (PHEX)	NP_001269683.1:n.1700+2T>C