Canonical Allele Identifier: CA16043308
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 372456
ClinVar RCV Id: RCV000414311
dbSNP Id: rs1057517792
MyVariant Identifiers: chrX:g.22117236dupA (hg19) chrX:g.22099118dupA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22099118dup , CM000685.2:g.22099118dup GRCh38
NC_000023.10:g.22117236dup , CM000685.1:g.22117236dup GRCh37
NC_000023.9:g.22027157dup NCBI36
NG_007563.2:g.71316dup

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.1472dup
ENST00000684143.1:c.1043dup ENSP00000508264.1:p.Asp348GlufsTer4
ENST00000684745.1:n.720dup
ENST00000379374.5:c.1046dup MANE Select ENSP00000368682.4:p.Asp349GlufsTer4
ENST00000379374.4:c.1046dup ENSP00000368682.4:p.Asp349GlufsTer4
ENST00000475778.1:n.319dup
NM_000444.5:c.1046dup NP_000435.3:p.Asp349GlufsTer4
NM_001282754.1:c.1046dup NP_001269683.1:p.Asp349GlufsTer4
XM_011545533.1:c.290dup XP_011543835.1:p.Asp97GlufsTer4
XM_011545534.1:c.290dup XP_011543836.1:p.Asp97GlufsTer4
XM_011545535.1:c.1046dup XP_011543837.1:p.Asp349GlufsTer4
XM_017029579.1:c.290dup XP_016885068.1:p.Asp97GlufsTer4
XM_024452390.1:c.755dup XP_024308158.1:p.Asp252GlufsTer4
XR_001755695.1:n.1725dup
NM_000444.6:c.1046dup MANE Select NP_000435.3:p.Asp349GlufsTer4
NM_001282754.2:c.1046dup NP_001269683.1:p.Asp349GlufsTer4
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