Canonical Allele Identifier: CA412574559

Gene: PHEX

Linked Data

• ClinVar Variation Id: 1339437
• ClinVar RCV Id: RCV001843312
• dbSNP Id: rs2147086323
• MyVariant Identifiers: chrX:g.22151653T>G (hg19) ; chrX:g.22133536T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133536T>G , CM000685.2:g.22133536T>G	GRCh38
NC_000023.10:g.22151653T>G , CM000685.1:g.22151653T>G	GRCh37
NC_000023.9:g.22061574T>G	NCBI36
NG_007563.2:g.105733T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684745.1:n.990T>G
ENST00000379374.5:c.1316T>G MANE Select	ENSP00000368682.4:p.Val439Gly
ENST00000379374.4:c.1316T>G	ENSP00000368682.4:p.Val439Gly
NM_000444.5:c.1316T>G	NP_000435.3:p.Val439Gly
NM_001282754.1:c.1316T>G	NP_001269683.1:p.Val439Gly
XM_011545533.1:c.560T>G	XP_011543835.1:p.Val187Gly
XM_011545534.1:c.560T>G	XP_011543836.1:p.Val187Gly
XM_011545535.1:c.1316T>G	XP_011543837.1:p.Val439Gly
XM_011545536.1:c.209T>G	XP_011543838.1:p.Val70Gly
XM_011545536.2:c.209T>G	XP_011543838.1:p.Val70Gly
XM_017029579.1:c.560T>G	XP_016885068.1:p.Val187Gly
XM_024452390.1:c.1025T>G	XP_024308158.1:p.Val342Gly
XR_001755695.1:n.1995T>G
NM_000444.6:c.1316T>G MANE Select	NP_000435.3:p.Val439Gly
NM_001282754.2:c.1316T>G	NP_001269683.1:p.Val439Gly