ENST00000621517.1 GJA5

Information
Transcript ID
ENST00000621517.1
Genome
hg38
Position
chr1:147,756,200-147,773,362
Strand
-
CDS length
1,077
Amino acid length
359
Gene symbol
GJA5
Gene type
protein-coding
Gene description
gap junction protein alpha 5
Gene Entrez Gene ID
2702
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
2 147,756,200 147,759,271
1 147,773,252 147,773,362
CDS
Exon number Type Start Stop
2 CDS 147,758,162 147,759,238
Other genome
Genome Chromosome Start End Links
hg19 chr1 147,228,333 147,245,466 Link
CDS sequence
ATGGGCGATTGGAGCTTCCTGGGAAATTTCCTGGAGGAAGTACACAAGCACTCGACCGTGGTAGGCAAGGTCTGGCTCACTGTCCTCTTCATATTCCGTATGCTCGTGCTGGGCACAGCTGCTGAGTCTTCCTGGGGGGATGAGCAGGCTGATTTCCGGTGTGATACGATTCAGCCTGGCTGCCAGAATGTCTGCTACGACCAGGCTTTCCCCATCTCCCACATTCGCTACTGGGTGCTGCAGATCATCTTCGTCTCCACGCCCTCTCTGGTGTACATGGGCCACGCCATGCACACTGTGCGCATGCAGGAGAAGCGCAAGCTACGGGAGGCCGAGAGGGCCAAAGAGGTCCGGGGCTCTGGCTCTTACGAGTACCCGGTGGCAGAGAAGGCAGAACTGTCCTGCTGGGAGGAAGGGAATGGAAGGATTGCCCTCCAGGGCACTCTGCTCAACACCTATGTGTGCAGCATCCTGATCCGCACCACCATGGAGGTGGGCTTCATTGTGGGCCAGTACTTCATCTACGGAATCTTCCTGACCACCCTGCATGTCTGCCGCAGGAGTCCCTGTCCCCACCCGGTCAACTGTTACGTATCCCGGCCCACAGAGAAGAATGTCTTCATTGTCTTTATGCTGGCTGTGGCTGCACTGTCCCTCCTCCTTAGCCTGGCTGAACTCTACCACCTGGGCTGGAAGAAGATCAGACAGCGATTTGTCAAACCGCGGCAGCACATGGCTAAGTGCCAGCTTTCTGGCCCCTCTGTGGGCATAGTCCAGAGCTGCACACCACCCCCCGACTTTAATCAGTGCCTGGAGAATGGCCCTGGGGGAAAATTCTTCAATCCCTTCAGCAATAATATGGCCTCCCAACAAAACACAGACAACCTGGTCACCGAGCAAGTACGAGGTCAGGAGCAGACTCCTGGGGAAGGTTTCATCCAGGTTCGTTATGGCCAGAAGCCTGAGGTGCCCAATGGAGTCTCACCAGGTCACCGCCTTCCCCATGGCTATCATAGTGACAAGCGACGTCTTAGTAAGGCCAGCAGCAAGGCAAGGTCAGATGACCTATCAGTGTGA
Amino sequence
MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAFPISHIRYWVLQIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGSGSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIRTTMEVGFIVGQYFIYGIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIRQRFVKPRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQVRGQEQTPGEGFIQVRYGQKPEVPNGVSPGHRLPHGYHSDKRRLSKASSKARSDDLSV*