Canonical Allele Identifier: CA412574900

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22196446A>T (hg19) ; chrX:g.22178329A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178329A>T , CM000685.2:g.22178329A>T	GRCh38
NC_000023.10:g.22196446A>T , CM000685.1:g.22196446A>T	GRCh37
NC_000023.9:g.22106367A>T	NCBI36
NG_007563.2:g.150526A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.93A>T	ENSP00000508003.1:p.Leu31Phe
ENST00000683162.1:c.93A>T	ENSP00000508059.1:p.Leu31Phe
ENST00000683289.1:c.93A>T	ENSP00000508195.1:p.Leu31Phe
ENST00000683917.1:n.323A>T
ENST00000684356.1:c.93A>T	ENSP00000507619.1:p.Leu31Phe
ENST00000684745.1:n.1213A>T
ENST00000379374.5:c.1539A>T MANE Select	ENSP00000368682.4:p.Leu513Phe
ENST00000379374.4:c.1539A>T	ENSP00000368682.4:p.Leu513Phe
NM_000444.5:c.1539A>T	NP_000435.3:p.Leu513Phe
NM_001282754.1:c.1539A>T	NP_001269683.1:p.Leu513Phe
XM_011545533.1:c.783A>T	XP_011543835.1:p.Leu261Phe
XM_011545534.1:c.783A>T	XP_011543836.1:p.Leu261Phe
XM_011545536.1:c.432A>T	XP_011543838.1:p.Leu144Phe
XM_011545536.2:c.432A>T	XP_011543838.1:p.Leu144Phe
XM_017029579.1:c.783A>T	XP_016885068.1:p.Leu261Phe
XM_024452390.1:c.1248A>T	XP_024308158.1:p.Leu416Phe
XR_001755695.1:n.2379A>T
NM_000444.6:c.1539A>T MANE Select	NP_000435.3:p.Leu513Phe
NM_001282754.2:c.1539A>T	NP_001269683.1:p.Leu513Phe