Canonical Allele Identifier: CA412573942

Gene: PHEX PHEX-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22168313C>A , CM000685.2:g.22168313C>A	GRCh38
NC_000023.10:g.22186430C>A , CM000685.1:g.22186430C>A	GRCh37
NC_000023.9:g.22096351C>A	NCBI36
NG_007563.2:g.140510C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1406C>A (PHEX) MANE Select	NP_000435.3:p.Ala469Glu
ENST00000379374.5:c.1406C>A (PHEX) MANE Select	ENSP00000368682.4:p.Ala469Glu
NM_000444.5:c.1406C>A (PHEX)	NP_000435.3:p.Ala469Glu
NM_001282754.1:c.1406C>A (PHEX)	NP_001269683.1:p.Ala469Glu
NM_001282754.2:c.1406C>A (PHEX)	NP_001269683.1:p.Ala469Glu
NR_046639.1:n.1267+1481G>T (PHEX-AS1)
ENST00000379374.4:c.1406C>A (PHEX)	ENSP00000368682.4:p.Ala469Glu
ENST00000682888.1:c.-41C>A (PHEX)	ENSP00000508003.1:n.-41C>A
ENST00000683162.1:c.-41C>A (PHEX)	ENSP00000508059.1:n.-41C>A
ENST00000683289.1:c.-41C>A (PHEX)	ENSP00000508195.1:n.-41C>A
ENST00000683917.1:n.190C>A (PHEX)
ENST00000684356.1:c.-41C>A (PHEX)	ENSP00000507619.1:n.-41C>A
ENST00000684745.1:n.1080C>A (PHEX)
XM_011545533.1:c.650C>A (PHEX)	XP_011543835.1:p.Ala217Glu
XM_011545534.1:c.650C>A (PHEX)	XP_011543836.1:p.Ala217Glu
XM_011545536.1:c.299C>A (PHEX)	XP_011543838.1:p.Ala100Glu
XM_011545536.2:c.299C>A (PHEX)	XP_011543838.1:p.Ala100Glu
XM_017029579.1:c.650C>A (PHEX)	XP_016885068.1:p.Ala217Glu
XM_024452390.1:c.1115C>A (PHEX)	XP_024308158.1:p.Ala372Glu
XR_001755695.1:n.2246C>A (PHEX)