ENST00000543090.5 HMBS

Information
Transcript ID
ENST00000543090.5
Genome
hg38
Position
chr11:119,084,930-119,093,533
Strand
+
CDS length
993
Amino acid length
331
Gene symbol
HMBS
Gene type
protein-coding
Gene description
hydroxymethylbilane synthase
Gene Entrez Gene ID
3145
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
1 119,084,930 119,085,066
2 119,088,635 119,088,707
3 119,089,082 119,089,131
4 119,089,217 119,089,272
5 119,089,683 119,089,760
6 119,089,990 119,090,067
7 119,090,190 119,090,265
8 119,091,413 119,091,526
9 119,092,404 119,092,523
10 119,092,758 119,092,811
11 119,092,935 119,093,021
12 119,093,110 119,093,533
CDS
Exon number Type Start Stop
1 CDS 119,085,034 119,085,066
2 CDS 119,088,635 119,088,707
3 CDS 119,089,082 119,089,131
4 CDS 119,089,217 119,089,272
5 CDS 119,089,683 119,089,760
6 CDS 119,089,990 119,090,067
7 CDS 119,090,190 119,090,265
8 CDS 119,091,413 119,091,526
9 CDS 119,092,404 119,092,523
10 CDS 119,092,758 119,092,811
11 CDS 119,092,935 119,093,021
12 CDS 119,093,110 119,093,283
Other genome
Genome Chromosome Start End Links
hg19 chr11 118,955,640 118,964,243 Link
CDS sequence
ATGTCTGGTAACGGCAATGCGGCTGCAACGGCGCTTGCTCGCATACAGACGGACAGTGTGGTGGCAACATTGAAAGCCTCGTACCCTGGCCTGCAGTTTGAAATCATTGCTATGTCCACCACAGGGGACAAGATTCTTGATACTGCACTCTCTAAGATTGGAGAGAAAAGCCTGTTTACCAAGGAGCTTGAACATGCCCTGGAGAAGAATGAAGTGGACCTGGTTGTTCACTCCTTGAAGGACCTGCCCACTGTGCTTCCTCCTGGCTTCACCATCGGAGCCATCTGCAAGCGGGAAAACCCTCATGATGCTGTTGTCTTTCACCCAAAATTTGTTGGGAAGACCCTAGAAACCCTGCCAGAGAAGAGTGTGGTGGGAACCAGCTCCCTGCGAAGAGCAGCCCAGCTGCAGAGAAAGTTCCCGCATCTGGAGTTCAGGAGTATTCGGGGAAACCTCAACACCCGGCTTCGGAAGCTGGACGAGCAGCAGGAGTTCAGTGCCATCATCCTGGCAACAGCTGGCCTGCAGCGCATGGGCTGGCACAACCGGGTGGGGCAGGGGGCCTTGGGCGTGGAAGTGCGAGCCAAGGACCAGGACATCTTGGATCTGGTGGGTGTGCTGCACGATCCCGAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTGGAAGGAGGCTGCAGTGTGCCAGTAGCCGTGCATACAGCTATGAAGGATGGGCAACTGTACCTGACTGGAGGAGTCTGGAGTCTAGACGGCTCAGATAGCATACAAGAGACCATGCAGGCTACCATCCATGTCCCTGCCCAGCATGAAGATGGCCCTGAGGATGACCCACAGTTGGTAGGCATCACTGCTCGTAACATTCCACGAGGGCCCCAGTTGGCTGCCCAGAACTTGGGCATCAGCCTGGCCAACTTGTTGCTGAGCAAAGGAGCCAAAAACATCCTGGATGTTGCACGGCAGCTTAACGATGCCCATTAA
Amino sequence
MSGNGNAAATALARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*