Canonical Allele Identifier: CA412574816

Gene: PHEX

Linked Data

• gnomAD v4: X-22178289-C-T
• MyVariant Identifiers: chrX:g.22196406C>T (hg19) ; chrX:g.22178289C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.53C>T	ENSP00000508003.1:p.Ala18Val
ENST00000683162.1:c.53C>T	ENSP00000508059.1:p.Ala18Val
ENST00000683289.1:c.53C>T	ENSP00000508195.1:p.Ala18Val
ENST00000683917.1:n.283C>T
ENST00000684356.1:c.53C>T	ENSP00000507619.1:p.Ala18Val
ENST00000684745.1:n.1173C>T
ENST00000379374.5:c.1499C>T MANE Select	ENSP00000368682.4:p.Ala500Val
ENST00000379374.4:c.1499C>T	ENSP00000368682.4:p.Ala500Val
NM_000444.5:c.1499C>T	NP_000435.3:p.Ala500Val
NM_001282754.1:c.1499C>T	NP_001269683.1:p.Ala500Val
XM_011545533.1:c.743C>T	XP_011543835.1:p.Ala248Val
XM_011545534.1:c.743C>T	XP_011543836.1:p.Ala248Val
XM_011545536.1:c.392C>T	XP_011543838.1:p.Ala131Val
XM_011545536.2:c.392C>T	XP_011543838.1:p.Ala131Val
XM_017029579.1:c.743C>T	XP_016885068.1:p.Ala248Val
XM_024452390.1:c.1208C>T	XP_024308158.1:p.Ala403Val
XR_001755695.1:n.2339C>T
NM_000444.6:c.1499C>T MANE Select	NP_000435.3:p.Ala500Val
NM_001282754.2:c.1499C>T	NP_001269683.1:p.Ala500Val