Canonical Allele Identifier: CA412574563

Gene: PHEX

Linked Data

• ClinVar Variation Id: 2686046
• ClinVar RCV Id: RCV003484226
• MyVariant Identifiers: chrX:g.22151655G>T (hg19) ; chrX:g.22133538G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133538G>T , CM000685.2:g.22133538G>T	GRCh38
NC_000023.10:g.22151655G>T , CM000685.1:g.22151655G>T	GRCh37
NC_000023.9:g.22061576G>T	NCBI36
NG_007563.2:g.105735G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684745.1:n.992G>T
ENST00000379374.5:c.1318G>T MANE Select	ENSP00000368682.4:p.Glu440Ter
ENST00000379374.4:c.1318G>T	ENSP00000368682.4:p.Glu440Ter
NM_000444.5:c.1318G>T	NP_000435.3:p.Glu440Ter
NM_001282754.1:c.1318G>T	NP_001269683.1:p.Glu440Ter
XM_011545533.1:c.562G>T	XP_011543835.1:p.Glu188Ter
XM_011545534.1:c.562G>T	XP_011543836.1:p.Glu188Ter
XM_011545535.1:c.1318G>T	XP_011543837.1:p.Glu440Ter
XM_011545536.1:c.211G>T	XP_011543838.1:p.Glu71Ter
XM_011545536.2:c.211G>T	XP_011543838.1:p.Glu71Ter
XM_017029579.1:c.562G>T	XP_016885068.1:p.Glu188Ter
XM_024452390.1:c.1027G>T	XP_024308158.1:p.Glu343Ter
XR_001755695.1:n.1997G>T
NM_000444.6:c.1318G>T MANE Select	NP_000435.3:p.Glu440Ter
NM_001282754.2:c.1318G>T	NP_001269683.1:p.Glu440Ter