Canonical Allele Identifier: CA412575351

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247853T>G , CM000685.2:g.22247853T>G	GRCh38
NC_000023.10:g.22265970T>G , CM000685.1:g.22265970T>G	GRCh37
NC_000023.9:g.22175891T>G	NCBI36
NG_007563.2:g.220050T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.2150T>G (PHEX) MANE Select	NP_000435.3:p.Val717Gly
ENST00000379374.5:c.2150T>G (PHEX) MANE Select	ENSP00000368682.4:p.Val717Gly
NM_000444.5:c.2150T>G (PHEX)	NP_000435.3:p.Val717Gly
NM_001282754.1:c.2073T>G (PHEX)	NP_001269683.1:p.Gly691=
NM_001282754.2:c.2073T>G (PHEX)	NP_001269683.1:p.Gly691=
NR_073010.2:n.850+6086A>C (PTCHD1-AS)
ENST00000379374.4:c.2150T>G (PHEX)	ENSP00000368682.4:p.Val717Gly
ENST00000683162.1:c.*88T>G (PHEX)	ENSP00000508059.1:n.*88T>G
ENST00000683289.1:c.624+20242T>G (PHEX)	ENSP00000508195.1:n.624+20242T>G
ENST00000683917.1:n.934T>G (PHEX)
ENST00000684356.1:c.704T>G (PHEX)	ENSP00000507619.1:p.Val235Gly
ENST00000684745.1:n.1824T>G (PHEX)
XM_011545533.1:c.1394T>G (PHEX)	XP_011543835.1:p.Val465Gly
XM_011545534.1:c.1394T>G (PHEX)	XP_011543836.1:p.Val465Gly
XM_011545536.1:c.1043T>G (PHEX)	XP_011543838.1:p.Val348Gly
XM_011545536.2:c.1043T>G (PHEX)	XP_011543838.1:p.Val348Gly
XM_017029579.1:c.1394T>G (PHEX)	XP_016885068.1:p.Val465Gly
XM_024452390.1:c.1859T>G (PHEX)	XP_024308158.1:p.Val620Gly
XR_001755695.1:n.2990T>G (PHEX)
XR_950533.1:n.140+6086A>C
XR_950534.1:n.127+6086A>C