Canonical Allele Identifier: CA412574881

Gene: PHEX

Linked Data

• ClinVar Variation Id: 1072296
• ClinVar RCV Id: RCV001384980
• dbSNP Id: rs753522380
• MyVariant Identifiers: chrX:g.22196438A>T (hg19) ; chrX:g.22178321A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178321A>T , CM000685.2:g.22178321A>T	GRCh38
NC_000023.10:g.22196438A>T , CM000685.1:g.22196438A>T	GRCh37
NC_000023.9:g.22106359A>T	NCBI36
NG_007563.2:g.150518A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.85A>T	ENSP00000508003.1:p.Lys29Ter
ENST00000683162.1:c.85A>T	ENSP00000508059.1:p.Lys29Ter
ENST00000683289.1:c.85A>T	ENSP00000508195.1:p.Lys29Ter
ENST00000683917.1:n.315A>T
ENST00000684356.1:c.85A>T	ENSP00000507619.1:p.Lys29Ter
ENST00000684745.1:n.1205A>T
ENST00000379374.5:c.1531A>T MANE Select	ENSP00000368682.4:p.Lys511Ter
ENST00000379374.4:c.1531A>T	ENSP00000368682.4:p.Lys511Ter
NM_000444.5:c.1531A>T	NP_000435.3:p.Lys511Ter
NM_001282754.1:c.1531A>T	NP_001269683.1:p.Lys511Ter
XM_011545533.1:c.775A>T	XP_011543835.1:p.Lys259Ter
XM_011545534.1:c.775A>T	XP_011543836.1:p.Lys259Ter
XM_011545536.1:c.424A>T	XP_011543838.1:p.Lys142Ter
XM_011545536.2:c.424A>T	XP_011543838.1:p.Lys142Ter
XM_017029579.1:c.775A>T	XP_016885068.1:p.Lys259Ter
XM_024452390.1:c.1240A>T	XP_024308158.1:p.Lys414Ter
XR_001755695.1:n.2371A>T
NM_000444.6:c.1531A>T MANE Select	NP_000435.3:p.Lys511Ter
NM_001282754.2:c.1531A>T	NP_001269683.1:p.Lys511Ter