Canonical Allele Identifier: CA412574202

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 438510
• ClinVar RCV Id: RCV000505472 ; RCV001207802
• dbSNP Id: rs1556148532
• MyVariant Identifiers: chrX:g.22244596G>C (hg19) ; chrX:g.22226479G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226479G>C , CM000685.2:g.22226479G>C	GRCh38
NC_000023.10:g.22244596G>C , CM000685.1:g.22244596G>C	GRCh37
NC_000023.9:g.22154517G>C	NCBI36
NG_007563.2:g.198676G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.490G>C (PHEX)	ENSP00000508003.1:p.Asp164His
ENST00000683162.1:c.490G>C (PHEX)	ENSP00000508059.1:p.Asp164His
ENST00000683289.1:c.490G>C (PHEX)	ENSP00000508195.1:p.Asp164His
ENST00000683917.1:n.720G>C (PHEX)
ENST00000684356.1:c.490G>C (PHEX)	ENSP00000507619.1:p.Asp164His
ENST00000684745.1:n.1610G>C (PHEX)
ENST00000379374.5:c.1936G>C (PHEX) MANE Select	ENSP00000368682.4:p.Asp646His
ENST00000379374.4:c.1936G>C (PHEX)	ENSP00000368682.4:p.Asp646His
NM_000444.5:c.1936G>C (PHEX)	NP_000435.3:p.Asp646His
NM_001282754.1:c.1936G>C (PHEX)	NP_001269683.1:p.Asp646His
XM_011545533.1:c.1180G>C (PHEX)	XP_011543835.1:p.Asp394His
XM_011545534.1:c.1180G>C (PHEX)	XP_011543836.1:p.Asp394His
XM_011545536.1:c.829G>C (PHEX)	XP_011543838.1:p.Asp277His
XR_950534.1:n.326-456C>G
NR_073010.2:n.1048+991C>G (PTCHD1-AS)
XM_011545536.2:c.829G>C (PHEX)	XP_011543838.1:p.Asp277His
XM_017029579.1:c.1180G>C (PHEX)	XP_016885068.1:p.Asp394His
XM_024452390.1:c.1645G>C (PHEX)	XP_024308158.1:p.Asp549His
XR_001755695.1:n.2776G>C (PHEX)
NM_000444.6:c.1936G>C (PHEX) MANE Select	NP_000435.3:p.Asp646His
NM_001282754.2:c.1936G>C (PHEX)	NP_001269683.1:p.Asp646His