Canonical Allele Identifier: CA412572474

Gene: PHEX

Linked Data

• ClinVar Variation Id: 438488
• ClinVar RCV Id: RCV000505485
• dbSNP Id: rs1556024541
• MyVariant Identifiers: chrX:g.22112200G>T (hg19) ; chrX:g.22094082G>T (hg38)
• PubMed: PMID:10439971

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094082G>T , CM000685.2:g.22094082G>T	GRCh38
NC_000023.10:g.22112200G>T , CM000685.1:g.22112200G>T	GRCh37
NC_000023.9:g.22022121G>T	NCBI36
NG_007563.2:g.66280G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1258G>T
ENST00000684143.1:c.829G>T	ENSP00000508264.1:p.Glu277Ter
ENST00000684745.1:n.506G>T
ENST00000379374.5:c.832G>T MANE Select	ENSP00000368682.4:p.Glu278Ter
ENST00000379374.4:c.832G>T	ENSP00000368682.4:p.Glu278Ter
ENST00000475778.1:n.105G>T
NM_000444.5:c.832G>T	NP_000435.3:p.Glu278Ter
NM_001282754.1:c.832G>T	NP_001269683.1:p.Glu278Ter
XM_011545533.1:c.76G>T	XP_011543835.1:p.Glu26Ter
XM_011545534.1:c.76G>T	XP_011543836.1:p.Glu26Ter
XM_011545535.1:c.832G>T	XP_011543837.1:p.Glu278Ter
XM_017029579.1:c.76G>T	XP_016885068.1:p.Glu26Ter
XM_024452390.1:c.541G>T	XP_024308158.1:p.Glu181Ter
XR_001755695.1:n.1511G>T
NM_000444.6:c.832G>T MANE Select	NP_000435.3:p.Glu278Ter
NM_001282754.2:c.832G>T	NP_001269683.1:p.Glu278Ter