ENST00000577944.5 HEXD

Information
Transcript ID
ENST00000577944.5
Genome
hg38
Position
chr17:82,418,697-82,442,641
Strand
+
CDS length
1,635
Amino acid length
545
Gene symbol
HEXD
Gene type
protein-coding
Gene description
hexosaminidase D
Gene Entrez Gene ID
284004
Variants

Display target variant


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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
Search Word
Target data :
MGeND data only
Category :
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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 82,418,697 82,418,740
2 82,419,749 82,419,883
3 82,424,394 82,424,503
4 82,428,558 82,428,645
5 82,433,658 82,433,822
6 82,435,689 82,435,872
7 82,436,667 82,436,738
8 82,437,168 82,437,363
9 82,439,631 82,439,713
10 82,440,997 82,441,070
11 82,441,153 82,441,266
12 82,441,800 82,441,889
13 82,442,177 82,442,641
CDS
Exon number Type Start Stop
2 CDS 82,419,800 82,419,883
3 CDS 82,424,394 82,424,503
4 CDS 82,428,558 82,428,645
5 CDS 82,433,658 82,433,822
6 CDS 82,435,689 82,435,872
7 CDS 82,436,667 82,436,738
8 CDS 82,437,168 82,437,363
9 CDS 82,439,631 82,439,713
10 CDS 82,440,997 82,441,070
11 CDS 82,441,153 82,441,266
12 CDS 82,441,800 82,441,889
13 CDS 82,442,177 82,442,551
Other genome
Genome Chromosome Start End Links
hg19 chr17 80,376,573 80,400,517 Link
CDS sequence
ATGTCAGGTTCCACTCCATTTCAGATGAGATTAGTTCATTTAGACCTTAAAGGAGCTCCACCAAAGGTCTCGTACCTCTCAGAGATTTTTCCTCTGTTCCGTGCGCTAGGTGCAAACGGCCTCCTCATTGAGTATGAAGACATGTTTCCCTACGAGGGCCCTCTGAGGCTGCTGAGGGCCAAGTACGCCTACAGCCCCTCTGAAATCAAAGAGATCTTGCATCTGGCTGGACTCAATGAGCTGGAGGTGATTCCCTTGGTGCAGACATTTGGACACATGGAGTTTGTGCTGAAGCACACGGCCTTCGCCCACCTGCGGGAGGTGGGCTCCTTCCCCTGCACCCTGAACCCCCACGAGGCAGAGTCCCTGGCGCTGGTGGGCGCCATGATTGACCAGGTCCTGGAGCTACACCCAGGCGCCCAGCGGCTGCACATCGGGTGTGATGAGGTCTATTACCTCGGAGAGGGGGAGGCCTCGCGCCGGTGGCTACAGCAAGAGCAGAACAGCACGGGGAAGTTGTGCCTGTCACACATGCGGGCGGTGGCCAGCGGCGTGAAGGCCCGGCGCCCCAGCGTGACACCCCTGGTGTGGGACGACATGCTCCGAGACCTGCCTGAGGACCAGCTCGCAGCGTCCGGGGTGCCGCAGCTGGTGGAGCCGGTGCTCTGGGACTACACGGCCGACCTGGATGTGCACGGCAAGGTCCTCCTCATGCAGAAGTACCGGCGGTGCGGCTTTCCGCAGCTGTGGGCAGCCAGTGCCTTCAAGGGTGCCACGGGGCCCAGCCAGGCCGTGCCCCCTGTTGAGCACCACCTCAGGAACCACGTGCAGTGGCTGCAGGTGGCGGGCAGCGGGCCCACGGACTCACTGCAGGGCATCATCCTGACCGGCTGGCAGAGGTACGACCACTACTCTGTGCTGTGCGAGCTGCTGCCCGCAGGAGTCCCGTCCCTGGCCGCCTGCCTGCAGTTGCTTCTACGCGGAGGATTTGATGAAGATGTTAAAGCGAAAGTGGAGAACCTTCTCGGGATTTCCAGCCTGGAAAAAACGGACCCTGGCTCTCCGCAGGGAGGGGGCCGGCTCCTTCCCTGGCAGCAACATCCTTGCCCTTGTCACACAAGTCAGCCTCCATCTGCGCAGCTCTGTGGATGCGCTGCTGGAGGGCAACAGGTATGTCACTGGCTGGTTCAGCCCCTACCACCGCCAGCGGAAGCTCATCCACCCGGTCATGGTTCAGCACATCCAGCCCGCAGCGCTCAGCCTCCTGGCACAGTGGAGCACCCTCGTGCAGGAGCTGGAGGCTGCCCTGCAGCTGGCTTTCTACCCGGATGCCGTGGAGGAGTGGCTGGAGGAAAACGTGCACCCCAGCCTGCAGCGGCTGCAAGCTCTGCTGCAGGACCTCAGCGAGGTGTCTGCCCCCCCGCTGCCACCCACCAGCCCTGGCAGGGACGTTGCTCAGGACCCCTGAGGGGAGAGCTCATGCCAGGGGGCTCCTGCTGGAGGCTGGGGGGGCTCTGCACTGCCAAATGGCCTGGGCAATACGGGCCCACGTGGGCGTCGTGCCCTCTGGCCCAGCAGTGTCTTGCCCACACTCAGTTCCTGAGGGCCCTGGGCAGCCCCTGGGGGAGAGACTAG
Amino sequence
MSGSTPFQMRLVHLDLKGAPPKVSYLSEIFPLFRALGANGLLIEYEDMFPYEGPLRLLRAKYAYSPSEIKEILHLAGLNELEVIPLVQTFGHMEFVLKHTAFAHLREVGSFPCTLNPHEAESLALVGAMIDQVLELHPGAQRLHIGCDEVYYLGEGEASRRWLQQEQNSTGKLCLSHMRAVASGVKARRPSVTPLVWDDMLRDLPEDQLAASGVPQLVEPVLWDYTADLDVHGKVLLMQKYRRCGFPQLWAASAFKGATGPSQAVPPVEHHLRNHVQWLQVAGSGPTDSLQGIILTGWQRYDHYSVLCELLPAGVPSLAACLQLLLRGGFDEDVKAKVENLLGISSLEKTDPGSPQGGGRLLPWQQHPCPCHTSQPPSAQLCGCAAGGQQVCHWLVQPLPPPAEAHPPGHGSAHPARSAQPPGTVEHPRAGAGGCPAAGFLPGCRGGVAGGKRAPQPAAAASSAAGPQRGVCPPAATHQPWQGRCSGPLRGELMPGGSCWRLGGLCTAKWPGQYGPTWASCPLAQQCLAHTQFLRALGSPWGRD*