ENST00000380237.5 HBE1

Information
Transcript ID
ENST00000380237.5
Genome
hg19
Position
chr11:5,289,575-5,526,834
Strand
-
CDS length
444
Amino acid length
148
Gene symbol
HBE1
Gene type
protein-coding
Gene description
hemoglobin subunit epsilon 1
Gene Entrez Gene ID
3046
Variants

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Target data :
MGeND data only
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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
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Target data :
MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
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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
Exon
Exon number Start Stop
5 5,289,575 5,289,827
4 5,290,684 5,290,906
3 5,291,029 5,291,386
2 5,303,139 5,303,181
1 5,526,799 5,526,834
CDS
Exon number Type Start Stop
5 CDS 5,289,699 5,289,827
4 CDS 5,290,684 5,290,906
3 CDS 5,291,029 5,291,120
Other genome
Genome Chromosome Start End Links
hg38 chr11 5,268,345 5,505,604 Link
CDS sequence
ATGGTGCATTTTACTGCTGAGGAGAAGGCTGCCGTCACTAGCCTGTGGAGCAAGATGAATGTGGAAGAGGCTGGAGGTGAAGCCTTGGGCAGACTCCTCGTTGTTTACCCCTGGACCCAGAGATTTTTTGACAGCTTTGGAAACCTGTCGTCTCCCTCTGCCATCCTGGGCAACCCCAAGGTCAAGGCCCATGGCAAGAAGGTGCTGACTTCCTTTGGAGATGCTATTAAAAACATGGACAACCTCAAGCCCGCCTTTGCTAAGCTGAGTGAGCTGCACTGTGACAAGCTGCATGTGGATCCTGAGAACTTCAAGCTCCTGGGTAACGTGATGGTGATTATTCTGGCTACTCACTTTGGCAAGGAGTTCACCCCTGAAGTGCAGGCTGCCTGGCAGAAGCTGGTGTCTGCTGTCGCCATTGCCCTGGCCCATAAGTACCACTGA
Amino sequence
MVHFTAEEKAAVTSLWSKMNVEEAGGEALGRLLVVYPWTQRFFDSFGNLSSPSAILGNPKVKAHGKKVLTSFGDAIKNMDNLKPAFAKLSELHCDKLHVDPENFKLLGNVMVIILATHFGKEFTPEVQAAWQKLVSAVAIALAHKYH*