AMELX amelogenin X-linked

Information
Symbol
AMELX
Type
protein-coding
Description
amelogenin X-linked
Entrez Gene ID
265
Genome
hg19
Position
chrX:11,311,533-11,318,881
Genome
hg38
Position
chrX:11,293,413-11,300,761
MIM
300391 OMIM
HGNC
HGNC:461 HGNC
Ensembl
ENSG00000125363 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 4
Benign 0 18
Likely benign 0 16
not provided 7 6
Uncertain significance 0 14
Ranking
ClinVar
0
0
8
42
20
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM AI1E
SYNONYM AIH1
SYNONYM ALGN
SYNONYM AMG
SYNONYM AMGL
SYNONYM AMGX
MIM 300391 OMIM
HGNC HGNC:461 HGNC
Ensembl ENSG00000125363 Ensembl
AllianceGenome HGNC:461
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000380712.7 hg38 chrX 11,293,413 11,300,761 7,349
ENST00000380714.7 hg38 chrX 11,293,413 11,300,761 7,349
ENST00000348912.4 hg38 chrX 11,293,413 11,300,753 7,341
ENST00000348912.4 hg19 chrX 11,311,533 11,318,873 7,341
ENST00000380714.7 hg19 chrX 11,311,533 11,318,881 7,349
ENST00000380712.7 hg19 chrX 11,311,533 11,318,881 7,349
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