Canonical Allele Identifier: CA10603715

Gene: PHEX

Linked Data

• ClinVar Variation Id: 279870
• ClinVar RCV Id: RCV000280838 ; RCV002250611
• dbSNP Id: rs886041224
• gnomAD v4: X-22190502-C-T
• MyVariant Identifiers: chrX:g.22208619C>T (hg19) ; chrX:g.22190502C>T (hg38)
• PubMed: PMID:9097956 ; PMID:14564077 ; PMID:19219621 ; PMID:21902834 ; PMID:24836714 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22190502C>T , CM000685.2:g.22190502C>T	GRCh38
NC_000023.10:g.22208619C>T , CM000685.1:g.22208619C>T	GRCh37
NC_000023.9:g.22118540C>T	NCBI36
NG_007563.2:g.162699C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.199C>T	ENSP00000508003.1:p.Arg67Ter
ENST00000683162.1:c.199C>T	ENSP00000508059.1:p.Arg67Ter
ENST00000683289.1:c.199C>T	ENSP00000508195.1:p.Arg67Ter
ENST00000683917.1:n.429C>T
ENST00000684356.1:c.199C>T	ENSP00000507619.1:p.Arg67Ter
ENST00000684745.1:n.1319C>T
ENST00000379374.5:c.1645C>T MANE Select	ENSP00000368682.4:p.Arg549Ter
ENST00000379374.4:c.1645C>T	ENSP00000368682.4:p.Arg549Ter
NM_000444.5:c.1645C>T	NP_000435.3:p.Arg549Ter
NM_001282754.1:c.1645C>T	NP_001269683.1:p.Arg549Ter
XM_011545533.1:c.889C>T	XP_011543835.1:p.Arg297Ter
XM_011545534.1:c.889C>T	XP_011543836.1:p.Arg297Ter
XM_011545536.1:c.538C>T	XP_011543838.1:p.Arg180Ter
XM_011545536.2:c.538C>T	XP_011543838.1:p.Arg180Ter
XM_017029579.1:c.889C>T	XP_016885068.1:p.Arg297Ter
XM_024452390.1:c.1354C>T	XP_024308158.1:p.Arg452Ter
XR_001755695.1:n.2485C>T
NM_000444.6:c.1645C>T MANE Select	NP_000435.3:p.Arg549Ter
NM_001282754.2:c.1645C>T	NP_001269683.1:p.Arg549Ter