Canonical Allele Identifier: CA412574799

Gene: PHEX

Linked Data

• ClinVar Variation Id: 2823266
• ClinVar RCV Id: RCV003706607
• gnomAD v4: X-22178285-G-T
• MyVariant Identifiers: chrX:g.22196402G>T (hg19) ; chrX:g.22178285G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178285G>T , CM000685.2:g.22178285G>T	GRCh38
NC_000023.10:g.22196402G>T , CM000685.1:g.22196402G>T	GRCh37
NC_000023.9:g.22106323G>T	NCBI36
NG_007563.2:g.150482G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.49G>T	ENSP00000508003.1:p.Glu17Ter
ENST00000683162.1:c.49G>T	ENSP00000508059.1:p.Glu17Ter
ENST00000683289.1:c.49G>T	ENSP00000508195.1:p.Glu17Ter
ENST00000683917.1:n.279G>T
ENST00000684356.1:c.49G>T	ENSP00000507619.1:p.Glu17Ter
ENST00000684745.1:n.1169G>T
ENST00000379374.5:c.1495G>T MANE Select	ENSP00000368682.4:p.Glu499Ter
ENST00000379374.4:c.1495G>T	ENSP00000368682.4:p.Glu499Ter
NM_000444.5:c.1495G>T	NP_000435.3:p.Glu499Ter
NM_001282754.1:c.1495G>T	NP_001269683.1:p.Glu499Ter
XM_011545533.1:c.739G>T	XP_011543835.1:p.Glu247Ter
XM_011545534.1:c.739G>T	XP_011543836.1:p.Glu247Ter
XM_011545536.1:c.388G>T	XP_011543838.1:p.Glu130Ter
XM_011545536.2:c.388G>T	XP_011543838.1:p.Glu130Ter
XM_017029579.1:c.739G>T	XP_016885068.1:p.Glu247Ter
XM_024452390.1:c.1204G>T	XP_024308158.1:p.Glu402Ter
XR_001755695.1:n.2335G>T
NM_000444.6:c.1495G>T MANE Select	NP_000435.3:p.Glu499Ter
NM_001282754.2:c.1495G>T	NP_001269683.1:p.Glu499Ter