Canonical Allele Identifier: CA412572281

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22112114T>A (hg19) ; chrX:g.22093996T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093996T>A , CM000685.2:g.22093996T>A	GRCh38
NC_000023.10:g.22112114T>A , CM000685.1:g.22112114T>A	GRCh37
NC_000023.9:g.22022035T>A	NCBI36
NG_007563.2:g.66194T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1172T>A
ENST00000684143.1:c.743T>A	ENSP00000508264.1:p.Leu248His
ENST00000684745.1:n.420T>A
ENST00000379374.5:c.746T>A MANE Select	ENSP00000368682.4:p.Leu249His
ENST00000379374.4:c.746T>A	ENSP00000368682.4:p.Leu249His
ENST00000475778.1:n.19T>A
NM_000444.5:c.746T>A	NP_000435.3:p.Leu249His
NM_001282754.1:c.746T>A	NP_001269683.1:p.Leu249His
XM_011545533.1:c.-11T>A	XP_011543835.1:n.-11T>A
XM_011545534.1:c.-11T>A	XP_011543836.1:n.-11T>A
XM_011545535.1:c.746T>A	XP_011543837.1:p.Leu249His
XM_017029579.1:c.-11T>A	XP_016885068.1:n.-11T>A
XM_024452390.1:c.455T>A	XP_024308158.1:p.Leu152His
XR_001755695.1:n.1425T>A
NM_000444.6:c.746T>A MANE Select	NP_000435.3:p.Leu249His
NM_001282754.2:c.746T>A	NP_001269683.1:p.Leu249His