Canonical Allele Identifier: CA16043223
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 372452
ClinVar RCV Id: RCV000413519
dbSNP Id: rs1057517789
MyVariant Identifiers: chrX:g.22095657G>A (hg19) chrX:g.22077539G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22077539G>A , CM000685.2:g.22077539G>A GRCh38
NC_000023.10:g.22095657G>A , CM000685.1:g.22095657G>A GRCh37
NC_000023.9:g.22005578G>A NCBI36
NG_007563.2:g.49737G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.926G>A
ENST00000683214.1:n.608G>A
ENST00000684143.1:c.497G>A ENSP00000508264.1:p.Trp166Ter
ENST00000684745.1:n.174G>A
ENST00000379374.5:c.500G>A MANE Select ENSP00000368682.4:p.Trp167Ter
ENST00000379374.4:c.500G>A ENSP00000368682.4:p.Trp167Ter
NM_000444.5:c.500G>A NP_000435.3:p.Trp167Ter
NM_001282754.1:c.500G>A NP_001269683.1:p.Trp167Ter
XM_011545535.1:c.500G>A XP_011543837.1:p.Trp167Ter
XM_017029579.1:c.-93-12890G>A XP_016885068.1:n.-93-12890G>A
XM_024452390.1:c.209G>A XP_024308158.1:p.Trp70Ter
XR_001755695.1:n.1179G>A
NM_000444.6:c.500G>A MANE Select NP_000435.3:p.Trp167Ter
NM_001282754.2:c.500G>A NP_001269683.1:p.Trp167Ter
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