Canonical Allele Identifier: CA412574278

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1339458
• ClinVar RCV Id: RCV001843333 ; RCV001885369
• dbSNP Id: rs1064795147
• MyVariant Identifiers: chrX:g.22245623G>A (hg19) ; chrX:g.22227506G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22227506G>A , CM000685.2:g.22227506G>A	GRCh38
NC_000023.10:g.22245623G>A , CM000685.1:g.22245623G>A	GRCh37
NC_000023.9:g.22155544G>A	NCBI36
NG_007563.2:g.199703G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.520-1G>A (PHEX)	ENSP00000508059.1:n.520-1G>A
ENST00000683289.1:c.520-1G>A (PHEX)	ENSP00000508195.1:n.520-1G>A
ENST00000683917.1:n.750-1G>A (PHEX)
ENST00000684356.1:c.520-1G>A (PHEX)	ENSP00000507619.1:n.520-1G>A
ENST00000684745.1:n.1640-1G>A (PHEX)
ENST00000379374.5:c.1966-1G>A (PHEX) MANE Select	ENSP00000368682.4:n.1966-1G>A
ENST00000379374.4:c.1966-1G>A (PHEX)	ENSP00000368682.4:n.1966-1G>A
NM_000444.5:c.1966-1G>A (PHEX)	NP_000435.3:n.1966-1G>A
NM_001282754.1:c.1966-1G>A (PHEX)	NP_001269683.1:n.1966-1G>A
XM_011545533.1:c.1210-1G>A (PHEX)	XP_011543835.1:n.1210-1G>A
XM_011545534.1:c.1210-1G>A (PHEX)	XP_011543836.1:n.1210-1G>A
XM_011545536.1:c.859-1G>A (PHEX)	XP_011543838.1:n.859-1G>A
XR_950534.1:n.289C>T
NR_073010.2:n.1012C>T (PTCHD1-AS)
XM_011545536.2:c.859-1G>A (PHEX)	XP_011543838.1:n.859-1G>A
XM_017029579.1:c.1210-1G>A (PHEX)	XP_016885068.1:n.1210-1G>A
XM_024452390.1:c.1675-1G>A (PHEX)	XP_024308158.1:n.1675-1G>A
XR_001755695.1:n.2806-1G>A (PHEX)
NM_000444.6:c.1966-1G>A (PHEX) MANE Select	NP_000435.3:n.1966-1G>A
NM_001282754.2:c.1966-1G>A (PHEX)	NP_001269683.1:n.1966-1G>A