Canonical Allele Identifier: CA10603718

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22227520G>A , CM000685.2:g.22227520G>A	GRCh38
NC_000023.10:g.22245637G>A , CM000685.1:g.22245637G>A	GRCh37
NC_000023.9:g.22155558G>A	NCBI36
NG_007563.2:g.199717G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1979G>A (PHEX) MANE Select	NP_000435.3:p.Trp660Ter
ENST00000379374.5:c.1979G>A (PHEX) MANE Select	ENSP00000368682.4:p.Trp660Ter
NM_000444.5:c.1979G>A (PHEX)	NP_000435.3:p.Trp660Ter
NM_001282754.1:c.1979G>A (PHEX)	NP_001269683.1:p.Trp660Ter
NM_001282754.2:c.1979G>A (PHEX)	NP_001269683.1:p.Trp660Ter
NR_073010.2:n.998C>T (PTCHD1-AS)
ENST00000379374.4:c.1979G>A (PHEX)	ENSP00000368682.4:p.Trp660Ter
ENST00000683162.1:c.533G>A (PHEX)	ENSP00000508059.1:p.Trp178Ter
ENST00000683289.1:c.533G>A (PHEX)	ENSP00000508195.1:p.Trp178Ter
ENST00000683917.1:n.763G>A (PHEX)
ENST00000684356.1:c.533G>A (PHEX)	ENSP00000507619.1:p.Trp178Ter
ENST00000684745.1:n.1653G>A (PHEX)
XM_011545533.1:c.1223G>A (PHEX)	XP_011543835.1:p.Trp408Ter
XM_011545534.1:c.1223G>A (PHEX)	XP_011543836.1:p.Trp408Ter
XM_011545536.1:c.872G>A (PHEX)	XP_011543838.1:p.Trp291Ter
XM_011545536.2:c.872G>A (PHEX)	XP_011543838.1:p.Trp291Ter
XM_017029579.1:c.1223G>A (PHEX)	XP_016885068.1:p.Trp408Ter
XM_024452390.1:c.1688G>A (PHEX)	XP_024308158.1:p.Trp563Ter
XR_001755695.1:n.2819G>A (PHEX)
XR_950534.1:n.275C>T