Canonical Allele Identifier: CA412573617

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 2817618
• ClinVar RCV Id: RCV003711338
• MyVariant Identifiers: chrX:g.22239777G>T (hg19) ; chrX:g.22221660G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221660G>T , CM000685.2:g.22221660G>T	GRCh38
NC_000023.10:g.22239777G>T , CM000685.1:g.22239777G>T	GRCh37
NC_000023.9:g.22149698G>T	NCBI36
NG_007563.2:g.193857G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.370G>T (PHEX)	ENSP00000508003.1:p.Glu124Ter
ENST00000683162.1:c.370G>T (PHEX)	ENSP00000508059.1:p.Glu124Ter
ENST00000683289.1:c.370G>T (PHEX)	ENSP00000508195.1:p.Glu124Ter
ENST00000683917.1:n.600G>T (PHEX)
ENST00000684356.1:c.370G>T (PHEX)	ENSP00000507619.1:p.Glu124Ter
ENST00000684745.1:n.1490G>T (PHEX)
ENST00000379374.5:c.1816G>T (PHEX) MANE Select	ENSP00000368682.4:p.Glu606Ter
ENST00000379374.4:c.1816G>T (PHEX)	ENSP00000368682.4:p.Glu606Ter
NM_000444.5:c.1816G>T (PHEX)	NP_000435.3:p.Glu606Ter
NM_001282754.1:c.1816G>T (PHEX)	NP_001269683.1:p.Glu606Ter
XM_011545533.1:c.1060G>T (PHEX)	XP_011543835.1:p.Glu354Ter
XM_011545534.1:c.1060G>T (PHEX)	XP_011543836.1:p.Glu354Ter
XM_011545536.1:c.709G>T (PHEX)	XP_011543838.1:p.Glu237Ter
NR_073010.2:n.1048+5810C>A (PTCHD1-AS)
XM_011545536.2:c.709G>T (PHEX)	XP_011543838.1:p.Glu237Ter
XM_017029579.1:c.1060G>T (PHEX)	XP_016885068.1:p.Glu354Ter
XM_024452390.1:c.1525G>T (PHEX)	XP_024308158.1:p.Glu509Ter
XR_001755695.1:n.2656G>T (PHEX)
NM_000444.6:c.1816G>T (PHEX) MANE Select	NP_000435.3:p.Glu606Ter
NM_001282754.2:c.1816G>T (PHEX)	NP_001269683.1:p.Glu606Ter