ENST00000502692.5 ACTN3

Information
Transcript ID
ENST00000502692.5
Genome
hg38
Position
chr11:66,546,395-66,563,326
Strand
+
CDS length
2,835
Amino acid length
945
Gene symbol
ACTN3
Gene type
protein-coding
Gene description
actinin alpha 3
Gene Entrez Gene ID
89
Variants

Display target variant


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
Exon
Exon number Start Stop
1 66,546,395 66,546,786
2 66,551,239 66,551,353
3 66,551,528 66,551,647
4 66,554,045 66,554,131
5 66,554,536 66,554,623
6 66,555,130 66,555,208
7 66,555,286 66,555,367
8 66,556,145 66,556,230
9 66,557,133 66,557,225
10 66,557,699 66,557,929
11 66,558,027 66,558,174
12 66,559,236 66,559,386
13 66,559,968 66,560,076
14 66,560,171 66,560,311
15 66,560,573 66,560,755
16 66,561,227 66,561,361
17 66,561,458 66,561,637
18 66,562,022 66,562,168
19 66,562,257 66,562,322
20 66,562,796 66,562,954
21 66,563,035 66,563,326
CDS
Exon number Type Start Stop
1 CDS 66,546,511 66,546,786
2 CDS 66,551,239 66,551,353
3 CDS 66,551,528 66,551,647
4 CDS 66,554,045 66,554,131
5 CDS 66,554,536 66,554,623
6 CDS 66,555,130 66,555,208
7 CDS 66,555,286 66,555,367
8 CDS 66,556,145 66,556,230
9 CDS 66,557,133 66,557,225
10 CDS 66,557,699 66,557,929
11 CDS 66,558,027 66,558,174
12 CDS 66,559,236 66,559,386
13 CDS 66,559,968 66,560,076
14 CDS 66,560,171 66,560,311
15 CDS 66,560,573 66,560,755
16 CDS 66,561,227 66,561,361
17 CDS 66,561,458 66,561,637
18 CDS 66,562,022 66,562,168
19 CDS 66,562,257 66,562,322
20 CDS 66,562,796 66,562,954
21 CDS 66,563,035 66,563,193
Other genome
Genome Chromosome Start End Links
hg19 chr11 66,313,866 66,330,797 Link
CDS sequence
ATGGGGATAGGGCTCTGTGTCCCACCAGCGAGGTGCTGGAAGAGGCTCACGAGGAGCTCCAGAGGGCAGCCTCTAGAGCGGCCCGCGGCCACTATTATTATCGGCCTTTCTATTGTGGAGAGGAGTAAACAGACTCAGAGAGGTCCCGTGGATTTCTCAAGGTCACACAGCGCCCCAGCAGCGGAGCAGGAATGCAAACCCAGGATCTCCGCCGCGAGATCCACCCCGGCGCCCCCGAGTCCCGCAGTTCCCGGCTTCAGGACAACCCCTTGCCAGACCTTCACTGCCTGGTGCAACTCACACCTGCGCAAGGCAGGCACCCAGATCGAGAACATCGAGGAAGATTTCCGCAATGGCCTCAAACTCATGCTGCTCCTGGAGGTCATTTCAGGTGAGAGGCTGCCTAGGCCAGATAAAGGCAAGATGCGCTTCCACAAAATCGCCAACGTTAACAAGGCCCTGGACTTCATTGCCAGCAAGGGGGTTAAACTGGTGTCCATTGGTGCTGAAGAGATTGTTGACGGGAACCTGAAGATGACCCTGGGCATGATCTGGACCATCATCCTTCGCTTCGCCATCCAGGACATCTCTGTGGAAGAAACCTCAGCCAAGGAAGGCTTGCTTCTGTGGTGCCAGAGGAAGACAGCACCGTACCGCAACGTCAACGTGCAGAACTTCCACACCAGCTGGAAGGATGGCCTGGCCCTCTGTGCCCTCATCCACCGACACCGCCCTGACCTCATCGACTACGCCAAACTGCGAAAGGATGACCCCATCGGAAACCTGAACACTGCCTTTGAGGTGGCAGAGAAATACCTGGACATCCCCAAGATGTTGGATGCAGAAGACATTGTGAACACCCCAAAGCCGGATGAGAAGGCCATCATGACCTATGTGTCCTGCTTCTACCATGCCTTTGCCGGGGCTGAGCAGGCAGAGACAGCTGCCAACAGGATCTGCAAGGTGCTGGCAGTGAACCAGGAAAACGAGAAGCTGATGGAGGAGTATGAGAAGCTTGCCAGTGAGCTGCTGGAGTGGATCCGCCGCACTGTCCCATGGCTGGAGAACCGTGTGGGTGAGCCCAGCATGAGTGCCATGCAGCGCAAACTAGAGGACTTTCGGGACTACCGGCGTCTGCACAAGCCGCCCCGCATTCAGGAAAAGTGCCAGCTGGAGATCAACTTCAACACACTGCAGACCAAGTTGCGGCTCAGCCACCGGCCTGCCTTCATGCCCTCCGAGGGCAAGCTGGTCTCGGACATCGCCAACGCCTGGCGGGGGCTGGAGCAGGTGGAAAAGGGCTATGAGGACTGGCTGCTCTCGGAGATCCGGCGCCTGCAGCGACTCCAGCACCTGGCTGAGAAGTTCCGGCAGAAGGCCTCCCTGCACGAAGCCTGGACCCGGGGAAAGGAGGAGATGCTGAGCCAGCGCGACTACGATTCGGCTTTGCTACAGGAGGTGCGGGCGTTGCTGCGGCGCCACGAGGCCTTTGAGAGCGACCTGGCGGCGCACCAGGACCGCGTGGAGCACATTGCCGCGCTGGCCCAGGAGCTCAATGAGCTGGACTACCACGAGGCAGCCTCAGTGAATAGCCGCTGCCAGGCCATCTGCGATCAGTGGGACAACCTGGGCACCCTGACCCAGAAGAGGCGGGATGCGCTAGAGCGGATGGAGAAGCTCCTGGAGACCATTGACCGGCTGCAACTGGAGTTTGCCCGGCGGGCCGCGCCCTTCAACAACTGGCTGGATGGTGCCGTGGAGGACCTGCAGGACGTGTGGCTGGTACACTCTGTGGAGGAGACCCAGAGCCTGCTGACAGCGCACGATCAGTTCAAGGCAACACTGCCCGAGGCTGACCGAGAGCGAGGTGCCATCATGGGCATCCAGGGTGAGATCCAGAAGATCTGCCAGACGTATGGGCTGCGGCCCTGCTCCACCAATCCCTACATCACCCTCAGCCCGCAGGACATCAACACCAAGTGGGATATGGTCCGAAAGCTGGTGCCCAGCTGTGACCAGACACTGCAGGAGGAGCTGGCACGGCAGCAGGTAAACGAGAGGCTCCGGCGACAGTTTGCGGCCCAGGCCAATGCCATTGGACCCTGGATCCAGGCGAAGGTGGAGGAAGTGGGGCGGCTGGCAGCAGGGCTAGCTGGCTCTCTGGAGGAGCAGATGGCTGGGCTACGGCAGCAGGAGCAGAACATTATCAACTACAAGACTAACATTGACCGGCTGGAGGGTGACCACCAGCTGCTGCAGGAGAGCCTGGTGTTCGACAATAAGCACACCGTCTACAGCATGGAGCACATCCGCGTGGGCTGGGAGCAGCTGCTCACCTCCATTGCCCGCACCATCAATGAAGTGGAGAACCAGGTACTGACCCGAGACGCCAAGGGACTGAGCCAGGAGCAGCTCAACGAGTTCCGAGCATCCTTCAACCACTTTGACAGGAAGCAGAATGGGATGATGGAGCCTGATGACTTCCGAGCTTGCCTCATCTCCATGGGCTATGACCTGGGGGAAGTGGAGTTTGCTCGCATCATGACCATGGTGGACCCCAACGCAGCTGGGGTGGTGACCTTCCAGGCCTTCATAGACTTCATGACCCGAGAGACAGCCGAGACTGACACGACTGAGCAAGTTGTAGCTTCCTTCAAGATCTTGGCAGGAGACAAGAACTACATCACCCCCGAGGAGCTGCGGCGCGAGCTCCCTGCCAAGCAGGCCGAGTACTGCATCCGCCGTATGGTGCCCTACAAGGGATCCGGGGCCCCGGCTGGAGCCCTGGACTACGTGGCCTTCTCCAGTGCCCTCTATGGGGAGAGCGACCTTTGA
Amino sequence
MGIGLCVPPARCWKRLTRSSRGQPLERPAATIIIGLSIVERSKQTQRGPVDFSRSHSAPAAEQECKPRISAARSTPAPPSPAVPGFRTTPCQTFTAWCNSHLRKAGTQIENIEEDFRNGLKLMLLLEVISGERLPRPDKGKMRFHKIANVNKALDFIASKGVKLVSIGAEEIVDGNLKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNVQNFHTSWKDGLALCALIHRHRPDLIDYAKLRKDDPIGNLNTAFEVAEKYLDIPKMLDAEDIVNTPKPDEKAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENEKLMEEYEKLASELLEWIRRTVPWLENRVGEPSMSAMQRKLEDFRDYRRLHKPPRIQEKCQLEINFNTLQTKLRLSHRPAFMPSEGKLVSDIANAWRGLEQVEKGYEDWLLSEIRRLQRLQHLAEKFRQKASLHEAWTRGKEEMLSQRDYDSALLQEVRALLRRHEAFESDLAAHQDRVEHIAALAQELNELDYHEAASVNSRCQAICDQWDNLGTLTQKRRDALERMEKLLETIDRLQLEFARRAAPFNNWLDGAVEDLQDVWLVHSVEETQSLLTAHDQFKATLPEADRERGAIMGIQGEIQKICQTYGLRPCSTNPYITLSPQDINTKWDMVRKLVPSCDQTLQEELARQQVNERLRRQFAAQANAIGPWIQAKVEEVGRLAAGLAGSLEEQMAGLRQQEQNIINYKTNIDRLEGDHQLLQESLVFDNKHTVYSMEHIRVGWEQLLTSIARTINEVENQVLTRDAKGLSQEQLNEFRASFNHFDRKQNGMMEPDDFRACLISMGYDLGEVEFARIMTMVDPNAAGVVTFQAFIDFMTRETAETDTTEQVVASFKILAGDKNYITPEELRRELPAKQAEYCIRRMVPYKGSGAPAGALDYVAFSSALYGESDL*