Canonical Allele Identifier: CA412572280

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22112113C>T (hg19) ; chrX:g.22093995C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093995C>T , CM000685.2:g.22093995C>T	GRCh38
NC_000023.10:g.22112113C>T , CM000685.1:g.22112113C>T	GRCh37
NC_000023.9:g.22022034C>T	NCBI36
NG_007563.2:g.66193C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1171C>T
ENST00000684143.1:c.742C>T	ENSP00000508264.1:p.Leu248Phe
ENST00000684745.1:n.419C>T
ENST00000379374.5:c.745C>T MANE Select	ENSP00000368682.4:p.Leu249Phe
ENST00000379374.4:c.745C>T	ENSP00000368682.4:p.Leu249Phe
ENST00000475778.1:n.18C>T
NM_000444.5:c.745C>T	NP_000435.3:p.Leu249Phe
NM_001282754.1:c.745C>T	NP_001269683.1:p.Leu249Phe
XM_011545533.1:c.-12C>T	XP_011543835.1:n.-12C>T
XM_011545534.1:c.-12C>T	XP_011543836.1:n.-12C>T
XM_011545535.1:c.745C>T	XP_011543837.1:p.Leu249Phe
XM_017029579.1:c.-12C>T	XP_016885068.1:n.-12C>T
XM_024452390.1:c.454C>T	XP_024308158.1:p.Leu152Phe
XR_001755695.1:n.1424C>T
NM_000444.6:c.745C>T MANE Select	NP_000435.3:p.Leu249Phe
NM_001282754.2:c.745C>T	NP_001269683.1:p.Leu249Phe