Canonical Allele Identifier: CA873923105

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs1477310225
• MyVariant Identifiers: chrX:g.22266407C>G (hg19) ; chrX:g.22248290C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22248290C>G , CM000685.2:g.22248290C>G	GRCh38
NC_000023.10:g.22266407C>G , CM000685.1:g.22266407C>G	GRCh37
NC_000023.9:g.22176328C>G	NCBI36
NG_007563.2:g.220487C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*525C>G (PHEX)	ENSP00000508059.1:n.*525C>G
ENST00000683289.1:c.624+20679C>G (PHEX)	ENSP00000508195.1:n.624+20679C>G
ENST00000683917.1:n.1158+213C>G (PHEX)
ENST00000684356.1:c.*337C>G (PHEX)	ENSP00000507619.1:n.*337C>G
ENST00000684745.1:n.2261C>G (PHEX)
ENST00000379374.5:c.*337C>G (PHEX) MANE Select	ENSP00000368682.4:n.*337C>G
ENST00000379374.4:c.*337C>G (PHEX)	ENSP00000368682.4:n.*337C>G
NM_000444.5:c.*337C>G (PHEX)	NP_000435.3:n.*337C>G
NM_001282754.1:c.*422C>G (PHEX)	NP_001269683.1:n.*422C>G
XM_011545533.1:c.*337C>G (PHEX)	XP_011543835.1:n.*337C>G
XM_011545534.1:c.*337C>G (PHEX)	XP_011543836.1:n.*337C>G
XM_011545536.1:c.*337C>G (PHEX)	XP_011543838.1:n.*337C>G
XR_950533.1:n.140+5649G>C
XR_950534.1:n.127+5649G>C
NR_073010.2:n.850+5649G>C (PTCHD1-AS)
XM_011545536.2:c.*337C>G (PHEX)	XP_011543838.1:n.*337C>G
XM_017029579.1:c.*337C>G (PHEX)	XP_016885068.1:n.*337C>G
XM_024452390.1:c.*337C>G (PHEX)	XP_024308158.1:n.*337C>G
XR_001755695.1:n.3427C>G (PHEX)
NM_000444.6:c.*337C>G (PHEX) MANE Select	NP_000435.3:n.*337C>G
NM_001282754.2:c.*422C>G (PHEX)	NP_001269683.1:n.*422C>G