Canonical Allele Identifier: CA412575492

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22266032A>T (hg19) ; chrX:g.22247915A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247915A>T , CM000685.2:g.22247915A>T	GRCh38
NC_000023.10:g.22266032A>T , CM000685.1:g.22266032A>T	GRCh37
NC_000023.9:g.22175953A>T	NCBI36
NG_007563.2:g.220112A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*150A>T (PHEX)	ENSP00000508059.1:n.*150A>T
ENST00000683289.1:c.624+20304A>T (PHEX)	ENSP00000508195.1:n.624+20304A>T
ENST00000683917.1:n.996A>T (PHEX)
ENST00000684356.1:c.766A>T (PHEX)	ENSP00000507619.1:p.Thr256Ser
ENST00000684745.1:n.1886A>T (PHEX)
ENST00000379374.5:c.2212A>T (PHEX) MANE Select	ENSP00000368682.4:p.Thr738Ser
ENST00000379374.4:c.2212A>T (PHEX)	ENSP00000368682.4:p.Thr738Ser
NM_000444.5:c.2212A>T (PHEX)	NP_000435.3:p.Thr738Ser
NM_001282754.1:c.*47A>T (PHEX)	NP_001269683.1:n.*47A>T
XM_011545533.1:c.1456A>T (PHEX)	XP_011543835.1:p.Thr486Ser
XM_011545534.1:c.1456A>T (PHEX)	XP_011543836.1:p.Thr486Ser
XM_011545536.1:c.1105A>T (PHEX)	XP_011543838.1:p.Thr369Ser
XR_950533.1:n.140+6024T>A
XR_950534.1:n.127+6024T>A
NR_073010.2:n.850+6024T>A (PTCHD1-AS)
XM_011545536.2:c.1105A>T (PHEX)	XP_011543838.1:p.Thr369Ser
XM_017029579.1:c.1456A>T (PHEX)	XP_016885068.1:p.Thr486Ser
XM_024452390.1:c.1921A>T (PHEX)	XP_024308158.1:p.Thr641Ser
XR_001755695.1:n.3052A>T (PHEX)
NM_000444.6:c.2212A>T (PHEX) MANE Select	NP_000435.3:p.Thr738Ser
NM_001282754.2:c.*47A>T (PHEX)	NP_001269683.1:n.*47A>T