ENST00000322213.9 SMC1A

Information
Transcript ID
ENST00000322213.9
Genome
hg38
Position
chrX:53,374,149-53,422,654
Strand
-
CDS length
3,702
Amino acid length
1,234
Gene symbol
SMC1A
Gene type
protein-coding
Gene description
structural maintenance of chromosomes 1A
Gene Entrez Gene ID
8243
Variants

Display target variant


Search Word
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
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
25 53,374,149 53,380,186
24 53,380,620 53,380,730
23 53,381,018 53,381,087
22 53,382,232 53,382,383
21 53,382,506 53,382,660
20 53,383,097 53,383,253
19 53,394,778 53,394,888
18 53,396,227 53,396,380
17 53,396,472 53,396,617
16 53,399,589 53,399,730
15 53,403,566 53,403,672
14 53,403,777 53,403,893
13 53,405,012 53,405,149
12 53,405,245 53,405,391
11 53,405,493 53,405,672
10 53,405,771 53,405,956
9 53,409,062 53,409,269
8 53,409,421 53,409,503
7 53,411,761 53,411,901
6 53,411,995 53,412,253
5 53,412,900 53,413,138
4 53,413,232 53,413,435
3 53,414,758 53,414,870
2 53,414,981 53,415,169
1 53,422,492 53,422,654
CDS
Exon number Type Start Stop
25 CDS 53,380,103 53,380,186
24 CDS 53,380,620 53,380,730
23 CDS 53,381,018 53,381,087
22 CDS 53,382,232 53,382,383
21 CDS 53,382,506 53,382,660
20 CDS 53,383,097 53,383,253
19 CDS 53,394,778 53,394,888
18 CDS 53,396,227 53,396,380
17 CDS 53,396,472 53,396,617
16 CDS 53,399,589 53,399,730
15 CDS 53,403,566 53,403,672
14 CDS 53,403,777 53,403,893
13 CDS 53,405,012 53,405,149
12 CDS 53,405,245 53,405,391
11 CDS 53,405,493 53,405,672
10 CDS 53,405,771 53,405,956
9 CDS 53,409,062 53,409,269
8 CDS 53,409,421 53,409,503
7 CDS 53,411,761 53,411,901
6 CDS 53,411,995 53,412,253
5 CDS 53,412,900 53,413,138
4 CDS 53,413,232 53,413,435
3 CDS 53,414,758 53,414,870
2 CDS 53,414,981 53,415,169
1 CDS 53,422,492 53,422,600
Other genome
Genome Chromosome Start End Links
hg19 chrX 53,401,070 53,449,603 Link
CDS sequence
ATGGGGTTCCTGAAACTGATTGAGATTGAGAACTTTAAGTCGTACAAGGGTCGACAGATTATCGGACCATTTCAGAGGTTCACCGCCATCATTGGACCCAATGGCTCTGGTAAGTCAAATCTCATGGATGCCATCAGCTTTGTGCTAGGTGAAAAAACCAGCAACCTGCGGGTAAAGACCCTGCGGGACCTGATCCATGGAGCTCCTGTGGGCAAGCCAGCTGCCAACCGGGCCTTTGTCAGCATGGTCTACTCTGAGGAGGGTGCTGAGGACCGTACCTTTGCCCGTGTCATTGTAGGAGGTTCTTCTGAGTACAAGATCAACAACAAAGTGGTCCAACTACATGAGTACAGTGAGGAATTAGAGAAGTTGGGCATTCTCATCAAAGCTCGTAACTTCCTCGTTTTCCAGGGTGCTGTGGAATCTATTGCCATGAAGAACCCCAAAGAGAGGACAGCTCTATTTGAAGAGATTAGTCGTTCTGGGGAGCTGGCGCAGGAGTATGACAAGCGAAAGAAGGAAATGGTGAAGGCTGAAGAGGACACACAGTTTAATTACCATCGCAAGAAAAATATTGCGGCTGAACGCAAGGAAGCAAAGCAGGAGAAAGAAGAGGCTGACCGGTACCAGCGCCTGAAGGATGAGGTAGTACGGGCTCAGGTACAGCTGCAGCTCTTTAAGCTTTACCATAATGAAGTGGAAATTGAGAAGCTCAACAAGGAACTGGCCTCAAAGAACAAGGAGATCGAGAAGGACAAGAAGCGTATGGACAAGGTGGAGGATGAACTGAAGGAGAAGAAGAAGGAGCTGGGCAAAATGATGCGGGAGCAGCAGCAGATTGAGAAGGAGATCAAGGAGAAGGACTCAGAATTGAACCAGAAGCGGCCTCAGTACATCAAAGCCAAGGAGAACACCTCCCACAAAATCAAGAAGCTGGAAGCAGCCAAGAAGTCTCTGCAGAATGCTCAGAAGCACTACAAGAAGCGTAAAGGTGACATGGATGAGCTGGAGAAGGAGATGCTGTCAGTGGAGAAGGCTCGGCAGGAGTTTGAAGAACGGATGGAAGAAGAGAGTCAGAGTCAGGGCAGAGATTTGACGTTGGAGGAGAATCAGGTGAAGAAATACCACCGGTTGAAAGAAGAAGCCAGCAAGAGAGCAGCTACCCTGGCCCAGGAGCTGGAGAAATTCAATCGAGACCAGAAAGCTGACCAGGACCGTCTGGATCTGGAAGAACGGAAGAAAGTAGAGACAGAGGCCAAGATCAAGCAAAAGCTGCGGGAAATTGAAGAGAATCAGAAGCGGATTGAGAAACTGGAGGAATACATCACCACTAGCAAGCAGTCCCTAGAAGAGCAGAAGAAGCTAGAGGGGGAGCTGACAGAGGAGGTGGAGATGGCCAAGCGGCGTATTGATGAAATCAATAAGGAGCTGAACCAGGTGATGGAGCAGCTAGGGGATGCCCGCATCGACCGCCAGGAGAGCAGCCGCCAGCAGCGAAAGGCAGAGATAATGGAAAGCATCAAGCGCCTTTACCCTGGCTCTGTGTACGGCCGCCTCATTGACCTATGCCAGCCCACACAAAAGAAGTATCAGATTGCTGTAACCAAGGTTTTGGGCAAGAACATGGATGCCATTATTGTGGACTCGGAGAAGACAGGCCGGGACTGTATTCAGTATATCAAGGAGCAGCGTGGGGAGCCTGAGACCTTCTTGCCTCTTGACTACCTGGAGGTGAAGCCTACAGATGAGAAACTCCGGGAGCTGAAGGGGGCCAAGCTAGTGATTGATGTGATTCGCTATGAGCCACCTCATATCAAAAAGGCCCTGCAGTATGCTTGTGGCAATGCCCTTGTCTGTGACAACGTGGAAGATGCCCGCCGCATTGCCTTTGGAGGCCACCAGCGCCACAAGACAGTGGCACTGGATGGAACCCTATTCCAGAAGTCAGGAGTGATCTCTGGTGGGGCCAGTGACCTGAAGGCCAAGGCACGGCGCTGGGATGAGAAAGCAGTAGACAAGTTGAAAGAGAAGAAGGAGCGCTTGACAGAGGAGCTGAAAGAGCAGATGAAGGCAAAACGGAAAGAGGCAGAGCTGCGTCAGGTGCAGTCTCAGGCCCATGGACTGCAGATGCGGCTCAAGTACTCCCAGAGTGACCTAGAACAGACCAAGACACGACATCTAGCCCTGAATCTGCAGGAAAAATCCAAGCTGGAGAGTGAGCTAGCCAACTTTGGGCCTCGCATTAATGATATCAAGAGGATCATTCAGAGCCGAGAGAGGGAAATGAAAGACTTGAAGGAGAAGATGAACCAGGTAGAGGATGAGGTGTTTGAAGAGTTTTGTCGGGAGATTGGTGTGCGCAACATCCGGGAGTTTGAGGAAGAAAAGGTGAAACGGCAGAATGAAATCGCCAAGAAGCGTTTGGAGTTTGAGAATCAGAAGACTCGCTTGGGCATTCAGTTGGATTTTGAAAAGAACCAACTGAAGGAGGACCAAGATAAAGTACACATGTGGGAGCAGACAGTGAAAAAAGATGAAAATGAGATAGAAAAGCTCAAAAAGGAGGAACAAAGACACATGAAGATCATAGATGAGACCATGGCTCAGCTACAAGACCTGAAGAATCAGCATCTGGCCAAGAAGTCGGAAGTGAATGACAAGAATCATGAGATGGAGGAGATTCGTAAGAAACTCGGGGGCGCCAACAAGGAAATGACCCATTTACAGAAGGAGGTGACAGCCATTGAGACCAAGCTTGAACAGAAGCGCAGTGACCGTCACAACTTGCTACAGGCCTGTAAGATGCAGGACATTAAGTTGCCACTGTCAAAAGGCACCATGGATGATATTAGTCAGGAAGAGGGTAGCTCCCAGGGGGAGGACTCAGTGAGTGGTTCACAGAGAATTTCCAGTATCTATGCACGAGAGGCCCTCATTGAGATTGACTACGGTGATCTGTGTGAGGATCTGAAGGATGCCCAGGCTGAGGAAGAGATCAAGCAAGAGATGAACACACTGCAGCAGAAGCTGAATGAGCAGCAGAGTGTGCTTCAGCGTATTGCCGCCCCCAACATGAAGGCCATGGAAAAGCTGGAAAGTGTCCGAGACAAGTTCCAGGAGACCTCAGATGAGTTTGAAGCAGCCCGAAAGCGAGCAAAGAAGGCCAAGCAGGCATTCGAACAGATCAAGAAGGAGCGCTTTGACCGCTTCAATGCTTGTTTTGAATCTGTGGCTACCAACATTGATGAGATCTATAAGGCCCTGTCCCGCAATAGCAGTGCCCAGGCATTCCTGGGCCCTGAGAACCCTGAAGAGCCCTACTTGGATGGCATCAACTACAACTGTGTGGCTCCTGGGAAACGCTTCCGGCCTATGGACAACTTGTCAGGCGGGGAGAAGACAGTGGCAGCTCTGGCCCTGCTCTTTGCCATCCACAGCTACAAGCCAGCCCCCTTCTTCGTCCTGGATGAGATTGATGCTGCCTTGGATAACACCAACATTGGCAAGGTGGCAAATTACATCAAGGAGCAGTCGACTTGCAACTTCCAGGCCATCGTCATCTCTCTCAAGGAGGAGTTCTACACCAAGGCCGAGAGCCTCATTGGAGTCTATCCTGAGCAAGGGGACTGTGTGATCAGCAAAGTCCTGACCTTCGACCTCACCAAGTACCCAGATGCCAACCCCAACCCCAATGAGCAGTAG
Amino sequence
MGFLKLIEIENFKSYKGRQIIGPFQRFTAIIGPNGSGKSNLMDAISFVLGEKTSNLRVKTLRDLIHGAPVGKPAANRAFVSMVYSEEGAEDRTFARVIVGGSSEYKINNKVVQLHEYSEELEKLGILIKARNFLVFQGAVESIAMKNPKERTALFEEISRSGELAQEYDKRKKEMVKAEEDTQFNYHRKKNIAAERKEAKQEKEEADRYQRLKDEVVRAQVQLQLFKLYHNEVEIEKLNKELASKNKEIEKDKKRMDKVEDELKEKKKELGKMMREQQQIEKEIKEKDSELNQKRPQYIKAKENTSHKIKKLEAAKKSLQNAQKHYKKRKGDMDELEKEMLSVEKARQEFEERMEEESQSQGRDLTLEENQVKKYHRLKEEASKRAATLAQELEKFNRDQKADQDRLDLEERKKVETEAKIKQKLREIEENQKRIEKLEEYITTSKQSLEEQKKLEGELTEEVEMAKRRIDEINKELNQVMEQLGDARIDRQESSRQQRKAEIMESIKRLYPGSVYGRLIDLCQPTQKKYQIAVTKVLGKNMDAIIVDSEKTGRDCIQYIKEQRGEPETFLPLDYLEVKPTDEKLRELKGAKLVIDVIRYEPPHIKKALQYACGNALVCDNVEDARRIAFGGHQRHKTVALDGTLFQKSGVISGGASDLKAKARRWDEKAVDKLKEKKERLTEELKEQMKAKRKEAELRQVQSQAHGLQMRLKYSQSDLEQTKTRHLALNLQEKSKLESELANFGPRINDIKRIIQSREREMKDLKEKMNQVEDEVFEEFCREIGVRNIREFEEEKVKRQNEIAKKRLEFENQKTRLGIQLDFEKNQLKEDQDKVHMWEQTVKKDENEIEKLKKEEQRHMKIIDETMAQLQDLKNQHLAKKSEVNDKNHEMEEIRKKLGGANKEMTHLQKEVTAIETKLEQKRSDRHNLLQACKMQDIKLPLSKGTMDDISQEEGSSQGEDSVSGSQRISSIYAREALIEIDYGDLCEDLKDAQAEEEIKQEMNTLQQKLNEQQSVLQRIAAPNMKAMEKLESVRDKFQETSDEFEAARKRAKKAKQAFEQIKKERFDRFNACFESVATNIDEIYKALSRNSSAQAFLGPENPEEPYLDGINYNCVAPGKRFRPMDNLSGGEKTVAALALLFAIHSYKPAPFFVLDEIDAALDNTNIGKVANYIKEQSTCNFQAIVISLKEEFYTKAESLIGVYPEQGDCVISKVLTFDLTKYPDANPNPNEQ*