Canonical Allele Identifier: CA412572508

Gene: PHEX

Linked Data

• gnomAD v4: X-22094097-G-A
• COSMIC: COSM4824007
• MyVariant Identifiers: chrX:g.22112215G>A (hg19) ; chrX:g.22094097G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094097G>A , CM000685.2:g.22094097G>A	GRCh38
NC_000023.10:g.22112215G>A , CM000685.1:g.22112215G>A	GRCh37
NC_000023.9:g.22022136G>A	NCBI36
NG_007563.2:g.66295G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1273G>A
ENST00000684143.1:c.844G>A	ENSP00000508264.1:p.Glu282Lys
ENST00000684745.1:n.521G>A
ENST00000379374.5:c.847G>A MANE Select	ENSP00000368682.4:p.Glu283Lys
ENST00000379374.4:c.847G>A	ENSP00000368682.4:p.Glu283Lys
ENST00000475778.1:n.120G>A
NM_000444.5:c.847G>A	NP_000435.3:p.Glu283Lys
NM_001282754.1:c.847G>A	NP_001269683.1:p.Glu283Lys
XM_011545533.1:c.91G>A	XP_011543835.1:p.Glu31Lys
XM_011545534.1:c.91G>A	XP_011543836.1:p.Glu31Lys
XM_011545535.1:c.847G>A	XP_011543837.1:p.Glu283Lys
XM_017029579.1:c.91G>A	XP_016885068.1:p.Glu31Lys
XM_024452390.1:c.556G>A	XP_024308158.1:p.Glu186Lys
XR_001755695.1:n.1526G>A
NM_000444.6:c.847G>A MANE Select	NP_000435.3:p.Glu283Lys
NM_001282754.2:c.847G>A	NP_001269683.1:p.Glu283Lys