Canonical Allele Identifier: CA255561

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 10822
• ClinVar RCV Id: RCV000011569 ; RCV000414471
• dbSNP Id: rs137853271
• MyVariant Identifiers: chrX:g.22231074C>T (hg19) ; chrX:g.22212957C>T (hg38)
• PubMed: PMID:16303832

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22212957C>T , CM000685.2:g.22212957C>T	GRCh38
NC_000023.10:g.22231074C>T , CM000685.1:g.22231074C>T	GRCh37
NC_000023.9:g.22140995C>T	NCBI36
NG_007563.2:g.185154C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.253C>T (PHEX)	ENSP00000508003.1:p.Arg85Ter
ENST00000683162.1:c.253C>T (PHEX)	ENSP00000508059.1:p.Arg85Ter
ENST00000683289.1:c.253C>T (PHEX)	ENSP00000508195.1:p.Arg85Ter
ENST00000683917.1:n.483C>T (PHEX)
ENST00000684356.1:c.253C>T (PHEX)	ENSP00000507619.1:p.Arg85Ter
ENST00000684745.1:n.1373C>T (PHEX)
ENST00000379374.5:c.1699C>T (PHEX) MANE Select	ENSP00000368682.4:p.Arg567Ter
ENST00000379374.4:c.1699C>T (PHEX)	ENSP00000368682.4:p.Arg567Ter
NM_000444.5:c.1699C>T (PHEX)	NP_000435.3:p.Arg567Ter
NM_001282754.1:c.1699C>T (PHEX)	NP_001269683.1:p.Arg567Ter
XM_011545533.1:c.943C>T (PHEX)	XP_011543835.1:p.Arg315Ter
XM_011545534.1:c.943C>T (PHEX)	XP_011543836.1:p.Arg315Ter
XM_011545536.1:c.592C>T (PHEX)	XP_011543838.1:p.Arg198Ter
NR_073010.2:n.1049-10187G>A (PTCHD1-AS)
XM_011545536.2:c.592C>T (PHEX)	XP_011543838.1:p.Arg198Ter
XM_017029579.1:c.943C>T (PHEX)	XP_016885068.1:p.Arg315Ter
XM_024452390.1:c.1408C>T (PHEX)	XP_024308158.1:p.Arg470Ter
XR_001755695.1:n.2539C>T (PHEX)
NM_000444.6:c.1699C>T (PHEX) MANE Select	NP_000435.3:p.Arg567Ter
NM_001282754.2:c.1699C>T (PHEX)	NP_001269683.1:p.Arg567Ter