Canonical Allele Identifier: CA10368281

Gene: PHEX

Linked Data

• dbSNP Id: rs751837244
• ExAC: X:22196406 C / A
• gnomAD v3: X-22178289-C-A
• gnomAD v4: X-22178289-C-A
• MyVariant Identifiers: chrX:g.22196406C>A (hg19) ; chrX:g.22178289C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178289C>A , CM000685.2:g.22178289C>A	GRCh38
NC_000023.10:g.22196406C>A , CM000685.1:g.22196406C>A	GRCh37
NC_000023.9:g.22106327C>A	NCBI36
NG_007563.2:g.150486C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.53C>A	ENSP00000508003.1:p.Ala18Asp
ENST00000683162.1:c.53C>A	ENSP00000508059.1:p.Ala18Asp
ENST00000683289.1:c.53C>A	ENSP00000508195.1:p.Ala18Asp
ENST00000683917.1:n.283C>A
ENST00000684356.1:c.53C>A	ENSP00000507619.1:p.Ala18Asp
ENST00000684745.1:n.1173C>A
ENST00000379374.5:c.1499C>A MANE Select	ENSP00000368682.4:p.Ala500Asp
ENST00000379374.4:c.1499C>A	ENSP00000368682.4:p.Ala500Asp
NM_000444.5:c.1499C>A	NP_000435.3:p.Ala500Asp
NM_001282754.1:c.1499C>A	NP_001269683.1:p.Ala500Asp
XM_011545533.1:c.743C>A	XP_011543835.1:p.Ala248Asp
XM_011545534.1:c.743C>A	XP_011543836.1:p.Ala248Asp
XM_011545536.1:c.392C>A	XP_011543838.1:p.Ala131Asp
XM_011545536.2:c.392C>A	XP_011543838.1:p.Ala131Asp
XM_017029579.1:c.743C>A	XP_016885068.1:p.Ala248Asp
XM_024452390.1:c.1208C>A	XP_024308158.1:p.Ala403Asp
XR_001755695.1:n.2339C>A
NM_000444.6:c.1499C>A MANE Select	NP_000435.3:p.Ala500Asp
NM_001282754.2:c.1499C>A	NP_001269683.1:p.Ala500Asp