Canonical Allele Identifier: CA412574810

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22196404A>T (hg19) ; chrX:g.22178287A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178287A>T , CM000685.2:g.22178287A>T	GRCh38
NC_000023.10:g.22196404A>T , CM000685.1:g.22196404A>T	GRCh37
NC_000023.9:g.22106325A>T	NCBI36
NG_007563.2:g.150484A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.51A>T	ENSP00000508003.1:p.Glu17Asp
ENST00000683162.1:c.51A>T	ENSP00000508059.1:p.Glu17Asp
ENST00000683289.1:c.51A>T	ENSP00000508195.1:p.Glu17Asp
ENST00000683917.1:n.281A>T
ENST00000684356.1:c.51A>T	ENSP00000507619.1:p.Glu17Asp
ENST00000684745.1:n.1171A>T
ENST00000379374.5:c.1497A>T MANE Select	ENSP00000368682.4:p.Glu499Asp
ENST00000379374.4:c.1497A>T	ENSP00000368682.4:p.Glu499Asp
NM_000444.5:c.1497A>T	NP_000435.3:p.Glu499Asp
NM_001282754.1:c.1497A>T	NP_001269683.1:p.Glu499Asp
XM_011545533.1:c.741A>T	XP_011543835.1:p.Glu247Asp
XM_011545534.1:c.741A>T	XP_011543836.1:p.Glu247Asp
XM_011545536.1:c.390A>T	XP_011543838.1:p.Glu130Asp
XM_011545536.2:c.390A>T	XP_011543838.1:p.Glu130Asp
XM_017029579.1:c.741A>T	XP_016885068.1:p.Glu247Asp
XM_024452390.1:c.1206A>T	XP_024308158.1:p.Glu402Asp
XR_001755695.1:n.2337A>T
NM_000444.6:c.1497A>T MANE Select	NP_000435.3:p.Glu499Asp
NM_001282754.2:c.1497A>T	NP_001269683.1:p.Glu499Asp