Canonical Allele Identifier: CA10368257

Gene: PHEX PHEX-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22168368T>C , CM000685.2:g.22168368T>C	GRCh38
NC_000023.10:g.22186485T>C , CM000685.1:g.22186485T>C	GRCh37
NC_000023.9:g.22096406T>C	NCBI36
NG_007563.2:g.140565T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1461T>C (PHEX) MANE Select	NP_000435.3:p.His487=
ENST00000379374.5:c.1461T>C (PHEX) MANE Select	ENSP00000368682.4:p.His487=
NM_000444.5:c.1461T>C (PHEX)	NP_000435.3:p.His487=
NM_001282754.1:c.1461T>C (PHEX)	NP_001269683.1:p.His487=
NM_001282754.2:c.1461T>C (PHEX)	NP_001269683.1:p.His487=
NR_046639.1:n.1267+1426A>G (PHEX-AS1)
ENST00000379374.4:c.1461T>C (PHEX)	ENSP00000368682.4:p.His487=
ENST00000682888.1:c.15T>C (PHEX)	ENSP00000508003.1:p.His5=
ENST00000683162.1:c.15T>C (PHEX)	ENSP00000508059.1:p.His5=
ENST00000683289.1:c.15T>C (PHEX)	ENSP00000508195.1:p.His5=
ENST00000683917.1:n.245T>C (PHEX)
ENST00000684356.1:c.15T>C (PHEX)	ENSP00000507619.1:p.His5=
ENST00000684745.1:n.1135T>C (PHEX)
XM_011545533.1:c.705T>C (PHEX)	XP_011543835.1:p.His235=
XM_011545534.1:c.705T>C (PHEX)	XP_011543836.1:p.His235=
XM_011545536.1:c.354T>C (PHEX)	XP_011543838.1:p.His118=
XM_011545536.2:c.354T>C (PHEX)	XP_011543838.1:p.His118=
XM_017029579.1:c.705T>C (PHEX)	XP_016885068.1:p.His235=
XM_024452390.1:c.1170T>C (PHEX)	XP_024308158.1:p.His390=
XR_001755695.1:n.2301T>C (PHEX)