Canonical Allele Identifier: CA412574594

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22151670G>A (hg19) ; chrX:g.22133553G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133553G>A , CM000685.2:g.22133553G>A	GRCh38
NC_000023.10:g.22151670G>A , CM000685.1:g.22151670G>A	GRCh37
NC_000023.9:g.22061591G>A	NCBI36
NG_007563.2:g.105750G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.1007G>A
ENST00000379374.5:c.1333G>A MANE Select	ENSP00000368682.4:p.Ala445Thr
ENST00000379374.4:c.1333G>A	ENSP00000368682.4:p.Ala445Thr
NM_000444.5:c.1333G>A	NP_000435.3:p.Ala445Thr
NM_001282754.1:c.1333G>A	NP_001269683.1:p.Ala445Thr
XM_011545533.1:c.577G>A	XP_011543835.1:p.Ala193Thr
XM_011545534.1:c.577G>A	XP_011543836.1:p.Ala193Thr
XM_011545535.1:c.1333G>A	XP_011543837.1:p.Ala445Thr
XM_011545536.1:c.226G>A	XP_011543838.1:p.Ala76Thr
XM_011545536.2:c.226G>A	XP_011543838.1:p.Ala76Thr
XM_017029579.1:c.577G>A	XP_016885068.1:p.Ala193Thr
XM_024452390.1:c.1042G>A	XP_024308158.1:p.Ala348Thr
XR_001755695.1:n.2012G>A
NM_000444.6:c.1333G>A MANE Select	NP_000435.3:p.Ala445Thr
NM_001282754.2:c.1333G>A	NP_001269683.1:p.Ala445Thr