Canonical Allele Identifier: CA327534660

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs1018576746
• gnomAD v4: X-22248009-C-T
• MyVariant Identifiers: chrX:g.22266126C>T (hg19) ; chrX:g.22248009C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22248009C>T , CM000685.2:g.22248009C>T	GRCh38
NC_000023.10:g.22266126C>T , CM000685.1:g.22266126C>T	GRCh37
NC_000023.9:g.22176047C>T	NCBI36
NG_007563.2:g.220206C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*244C>T (PHEX)	ENSP00000508059.1:n.*244C>T
ENST00000683289.1:c.624+20398C>T (PHEX)	ENSP00000508195.1:n.624+20398C>T
ENST00000683917.1:n.1090C>T (PHEX)
ENST00000684356.1:c.*56C>T (PHEX)	ENSP00000507619.1:n.*56C>T
ENST00000684745.1:n.1980C>T (PHEX)
ENST00000379374.5:c.*56C>T (PHEX) MANE Select	ENSP00000368682.4:n.*56C>T
ENST00000379374.4:c.*56C>T (PHEX)	ENSP00000368682.4:n.*56C>T
NM_000444.5:c.*56C>T (PHEX)	NP_000435.3:n.*56C>T
NM_001282754.1:c.*141C>T (PHEX)	NP_001269683.1:n.*141C>T
XM_011545533.1:c.*56C>T (PHEX)	XP_011543835.1:n.*56C>T
XM_011545534.1:c.*56C>T (PHEX)	XP_011543836.1:n.*56C>T
XM_011545536.1:c.*56C>T (PHEX)	XP_011543838.1:n.*56C>T
XR_950533.1:n.140+5930G>A
XR_950534.1:n.127+5930G>A
NR_073010.2:n.850+5930G>A (PTCHD1-AS)
XM_011545536.2:c.*56C>T (PHEX)	XP_011543838.1:n.*56C>T
XM_017029579.1:c.*56C>T (PHEX)	XP_016885068.1:n.*56C>T
XM_024452390.1:c.*56C>T (PHEX)	XP_024308158.1:n.*56C>T
XR_001755695.1:n.3146C>T (PHEX)
NM_000444.6:c.*56C>T (PHEX) MANE Select	NP_000435.3:n.*56C>T
NM_001282754.2:c.*141C>T (PHEX)	NP_001269683.1:n.*141C>T