Canonical Allele Identifier: CA515427232

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1918658
• ClinVar RCV Id: RCV002630106
• dbSNP Id: rs1171844847
• gnomAD v2: X-22244607-C-T
• gnomAD v3: X-22226490-C-T
• gnomAD v4: X-22226490-C-T
• MyVariant Identifiers: chrX:g.22244607C>T (hg19) ; chrX:g.22226490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226490C>T , CM000685.2:g.22226490C>T	GRCh38
NC_000023.10:g.22244607C>T , CM000685.1:g.22244607C>T	GRCh37
NC_000023.9:g.22154528C>T	NCBI36
NG_007563.2:g.198687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.501C>T (PHEX)	ENSP00000508003.1:p.Gly167=
ENST00000683162.1:c.501C>T (PHEX)	ENSP00000508059.1:p.Gly167=
ENST00000683289.1:c.501C>T (PHEX)	ENSP00000508195.1:p.Gly167=
ENST00000683917.1:n.731C>T (PHEX)
ENST00000684356.1:c.501C>T (PHEX)	ENSP00000507619.1:p.Gly167=
ENST00000684745.1:n.1621C>T (PHEX)
ENST00000379374.5:c.1947C>T (PHEX) MANE Select	ENSP00000368682.4:p.Gly649=
ENST00000379374.4:c.1947C>T (PHEX)	ENSP00000368682.4:p.Gly649=
NM_000444.5:c.1947C>T (PHEX)	NP_000435.3:p.Gly649=
NM_001282754.1:c.1947C>T (PHEX)	NP_001269683.1:p.Gly649=
XM_011545533.1:c.1191C>T (PHEX)	XP_011543835.1:p.Gly397=
XM_011545534.1:c.1191C>T (PHEX)	XP_011543836.1:p.Gly397=
XM_011545536.1:c.840C>T (PHEX)	XP_011543838.1:p.Gly280=
XR_950534.1:n.326-467G>A
NR_073010.2:n.1048+980G>A (PTCHD1-AS)
XM_011545536.2:c.840C>T (PHEX)	XP_011543838.1:p.Gly280=
XM_017029579.1:c.1191C>T (PHEX)	XP_016885068.1:p.Gly397=
XM_024452390.1:c.1656C>T (PHEX)	XP_024308158.1:p.Gly552=
XR_001755695.1:n.2787C>T (PHEX)
NM_000444.6:c.1947C>T (PHEX) MANE Select	NP_000435.3:p.Gly649=
NM_001282754.2:c.1947C>T (PHEX)	NP_001269683.1:p.Gly649=