Canonical Allele Identifier: CA412574945

Gene: PHEX

Linked Data

• ClinVar Variation Id: 2117393
• ClinVar RCV Id: RCV003039178 ; RCV003395567
• MyVariant Identifiers: chrX:g.22196466G>A (hg19) ; chrX:g.22178349G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178349G>A , CM000685.2:g.22178349G>A	GRCh38
NC_000023.10:g.22196466G>A , CM000685.1:g.22196466G>A	GRCh37
NC_000023.9:g.22106387G>A	NCBI36
NG_007563.2:g.150546G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.113G>A	ENSP00000508003.1:p.Trp38Ter
ENST00000683162.1:c.113G>A	ENSP00000508059.1:p.Trp38Ter
ENST00000683289.1:c.113G>A	ENSP00000508195.1:p.Trp38Ter
ENST00000683917.1:n.343G>A
ENST00000684356.1:c.113G>A	ENSP00000507619.1:p.Trp38Ter
ENST00000684745.1:n.1233G>A
ENST00000379374.5:c.1559G>A MANE Select	ENSP00000368682.4:p.Trp520Ter
ENST00000379374.4:c.1559G>A	ENSP00000368682.4:p.Trp520Ter
NM_000444.5:c.1559G>A	NP_000435.3:p.Trp520Ter
NM_001282754.1:c.1559G>A	NP_001269683.1:p.Trp520Ter
XM_011545533.1:c.803G>A	XP_011543835.1:p.Trp268Ter
XM_011545534.1:c.803G>A	XP_011543836.1:p.Trp268Ter
XM_011545536.1:c.452G>A	XP_011543838.1:p.Trp151Ter
XM_011545536.2:c.452G>A	XP_011543838.1:p.Trp151Ter
XM_017029579.1:c.803G>A	XP_016885068.1:p.Trp268Ter
XM_024452390.1:c.1268G>A	XP_024308158.1:p.Trp423Ter
XR_001755695.1:n.2399G>A
NM_000444.6:c.1559G>A MANE Select	NP_000435.3:p.Trp520Ter
NM_001282754.2:c.1559G>A	NP_001269683.1:p.Trp520Ter