ENST00000337014.10 HEXD

Information
Transcript ID
ENST00000337014.10
Genome
hg19
Position
chr17:80,376,194-80,400,521
Strand
+
CDS length
1,758
Amino acid length
586
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
Search Word
Target data :
MGeND data only
Category :
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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 80,376,194 80,376,616
2 80,377,625 80,377,759
3 80,382,270 80,382,379
4 80,386,434 80,386,521
5 80,391,534 80,391,698
6 80,393,565 80,393,748
7 80,394,543 80,394,614
8 80,395,044 80,395,239
9 80,397,507 80,397,589
10 80,398,873 80,399,142
11 80,399,676 80,399,765
12 80,400,053 80,400,521
CDS
Exon number Type Start Stop
2 CDS 80,377,676 80,377,759
3 CDS 80,382,270 80,382,379
4 CDS 80,386,434 80,386,521
5 CDS 80,391,534 80,391,698
6 CDS 80,393,565 80,393,748
7 CDS 80,394,543 80,394,614
8 CDS 80,395,044 80,395,239
9 CDS 80,397,507 80,397,589
10 CDS 80,398,873 80,399,142
11 CDS 80,399,676 80,399,765
12 CDS 80,400,053 80,400,468
Other genome
Genome Chromosome Start End Links
hg38 chr17 82,418,318 82,442,645 Link
CDS sequence
ATGTCAGGTTCCACTCCATTTCAGATGAGATTAGTTCATTTAGACCTTAAAGGAGCTCCACCAAAGGTCTCGTACCTCTCAGAGATTTTTCCTCTGTTCCGTGCGCTAGGTGCAAACGGCCTCCTCATTGAGTATGAAGACATGTTTCCCTACGAGGGCCCTCTGAGGCTGCTGAGGGCCAAGTACGCCTACAGCCCCTCTGAAATCAAAGAGATCTTGCATCTGGCTGGACTCAATGAGCTGGAGGTGATTCCCTTGGTGCAGACATTTGGACACATGGAGTTTGTGCTGAAGCACACGGCCTTCGCCCACCTGCGGGAGGTGGGCTCCTTCCCCTGCACCCTGAACCCCCACGAGGCAGAGTCCCTGGCGCTGGTGGGCGCCATGATTGACCAGGTCCTGGAGCTACACCCAGGCGCCCAGCGGCTGCACATCGGGTGTGATGAGGTCTATTACCTCGGAGAGGGGGAGGCCTCGCGCCGGTGGCTACAGCAAGAGCAGAACAGCACGGGGAAGTTGTGCCTGTCACACATGCGGGCGGTGGCCAGCGGCGTGAAGGCCCGGCGCCCCAGCGTGACACCCCTGGTGTGGGACGACATGCTCCGAGACCTGCCTGAGGACCAGCTCGCAGCGTCCGGGGTGCCGCAGCTGGTGGAGCCGGTGCTCTGGGACTACACGGCCGACCTGGATGTGCACGGCAAGGTCCTCCTCATGCAGAAGTACCGGCGGTGCGGCTTTCCGCAGCTGTGGGCAGCCAGTGCCTTCAAGGGTGCCACGGGGCCCAGCCAGGCCGTGCCCCCTGTTGAGCACCACCTCAGGAACCACGTGCAGTGGCTGCAGGTGGCGGGCAGCGGGCCCACGGACTCACTGCAGGGCATCATCCTGACCGGCTGGCAGAGGTACGACCACTACTCTGTGCTGTGCGAGCTGCTGCCCGCAGGAGTCCCGTCCCTGGCCGCCTGCCTGCAGTTGCTTCTACGCGGAGGATTTGATGAAGATGTTAAAGCGAAAGTGGAGAACCTTCTCGGGATTTCCAGCCTGGAAAAAACGGACCCTGTTAGGCAAGCACCCTGCAGCCCTCCCTGTCCCCTTCTTCCCCTCCCCTTCCCCCGCCCGTGGAGACAGCTGTTCTCAGCAGGGCTCTCCGCAGGGAGGGGGCCGGCTCCTTCCCTGGCAGCAACATCCTTGCCCTTGTCACACAAGTCAGCCTCCATCTGCGCAGCTCTGTGGATGCGCTGCTGGAGGGCAACAGGTATGTCACTGGCTGGTTCAGCCCCTACCACCGCCAGCGGAAGCTCATCCACCCGGTCATGGTTCAGCACATCCAGCCCGCAGCGCTCAGCCTCCTGGCACAGTGGAGCACCCTCGTGCAGGAGCTGGAGGCTGCCCTGCAGCTGGCTTTCTACCCGGATGCCGTGGAGGAGTGGCTGGAGGAAAACGTGCACCCCAGCCTGCAGCGGCTGCAAGCTCTGCTGCAGGACCTCAGCGAGGTGTCTGCCCCCCCGCTGCCACCCACCAGCCCTGGCAGGGACGTTGCTCAGGACCCCTGAGGGGAGAGCTCATGCCAGGGGGCTCCTGCTGGAGGCTGGGGGGGCTCTGCACTGCCAAATGGCCTGGGCAATACGGGCCCACGTGGGCGTCGTGCCCTCTGGCCCAGCAGTGTCTTGCCCACACTCAGTTCCTGAGGGCCCTGGGCAGCCCCTGGGGGAGAGACTAGAAAACACAGAAGGAAGCAGCACAGGGAGACCCGCTTTGTGA
Amino sequence
MSGSTPFQMRLVHLDLKGAPPKVSYLSEIFPLFRALGANGLLIEYEDMFPYEGPLRLLRAKYAYSPSEIKEILHLAGLNELEVIPLVQTFGHMEFVLKHTAFAHLREVGSFPCTLNPHEAESLALVGAMIDQVLELHPGAQRLHIGCDEVYYLGEGEASRRWLQQEQNSTGKLCLSHMRAVASGVKARRPSVTPLVWDDMLRDLPEDQLAASGVPQLVEPVLWDYTADLDVHGKVLLMQKYRRCGFPQLWAASAFKGATGPSQAVPPVEHHLRNHVQWLQVAGSGPTDSLQGIILTGWQRYDHYSVLCELLPAGVPSLAACLQLLLRGGFDEDVKAKVENLLGISSLEKTDPVRQAPCSPPCPLLPLPFPRPWRQLFSAGLSAGRGPAPSLAATSLPLSHKSASICAALWMRCWRATGMSLAGSAPTTASGSSSTRSWFSTSSPQRSASWHSGAPSCRSWRLPCSWLSTRMPWRSGWRKTCTPACSGCKLCCRTSARCLPPRCHPPALAGTLLRTPEGRAHARGLLLEAGGALHCQMAWAIRAHVGVVPSGPAVSCPHSVPEGPGQPLGERLENTEGSSTGRPAL*