Canonical Allele Identifier: CA515431285

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v4: X-22247929-C-T
• MyVariant Identifiers: chrX:g.22266046C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247929C>T , CM000685.2:g.22247929C>T	GRCh38
NC_000023.10:g.22266046C>T , CM000685.1:g.22266046C>T	GRCh37
NC_000023.9:g.22175967C>T	NCBI36
NG_007563.2:g.220126C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*164C>T (PHEX)	ENSP00000508059.1:n.*164C>T
ENST00000683289.1:c.624+20318C>T (PHEX)	ENSP00000508195.1:n.624+20318C>T
ENST00000683917.1:n.1010C>T (PHEX)
ENST00000684356.1:c.780C>T (PHEX)	ENSP00000507619.1:p.Gly260=
ENST00000684745.1:n.1900C>T (PHEX)
ENST00000379374.5:c.2226C>T (PHEX) MANE Select	ENSP00000368682.4:p.Gly742=
ENST00000379374.4:c.2226C>T (PHEX)	ENSP00000368682.4:p.Gly742=
NM_000444.5:c.2226C>T (PHEX)	NP_000435.3:p.Gly742=
NM_001282754.1:c.*61C>T (PHEX)	NP_001269683.1:n.*61C>T
XM_011545533.1:c.1470C>T (PHEX)	XP_011543835.1:p.Gly490=
XM_011545534.1:c.1470C>T (PHEX)	XP_011543836.1:p.Gly490=
XM_011545536.1:c.1119C>T (PHEX)	XP_011543838.1:p.Gly373=
XR_950533.1:n.140+6010G>A
XR_950534.1:n.127+6010G>A
NR_073010.2:n.850+6010G>A (PTCHD1-AS)
XM_011545536.2:c.1119C>T (PHEX)	XP_011543838.1:p.Gly373=
XM_017029579.1:c.1470C>T (PHEX)	XP_016885068.1:p.Gly490=
XM_024452390.1:c.1935C>T (PHEX)	XP_024308158.1:p.Gly645=
XR_001755695.1:n.3066C>T (PHEX)
NM_000444.6:c.2226C>T (PHEX) MANE Select	NP_000435.3:p.Gly742=
NM_001282754.2:c.*61C>T (PHEX)	NP_001269683.1:n.*61C>T