ENST00000577944.5 HEXD

Information
Transcript ID
ENST00000577944.5
Genome
hg19
Position
chr17:80,376,573-80,400,517
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
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 80,376,573 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 80,398,946
11 80,399,029 80,399,142
12 80,399,676 80,399,765
13 80,400,053 80,400,517
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 80,398,946
11 CDS 80,399,029 80,399,142
12 CDS 80,399,676 80,399,765
13 CDS 80,400,053 80,400,427
Other genome
Genome Chromosome Start End Links
hg38 chr17 82,418,697 82,442,641 Link
CDS sequence
ATGTCAGGTTCCACTCCATTTCAGATGAGATTAGTTCATTTAGACCTTAAAGGAGCTCCACCAAAGGTCTCGTACCTCTCAGAGATTTTTCCTCTGTTCCGTGCGCTAGGTGCAAACGGCCTCCTCATTGAGTATGAAGACATGTTTCCCTACGAGGGCCCTCTGAGGCTGCTGAGGGCCAAGTACGCCTACAGCCCCTCTGAAATCAAAGAGATCTTGCATCTGGCTGGACTCAATGAGCTGGAGGTGATTCCCTTGGTGCAGACATTTGGACACATGGAGTTTGTGCTGAAGCACACGGCCTTCGCCCACCTGCGGGAGGTGGGCTCCTTCCCCTGCACCCTGAACCCCCACGAGGCAGAGTCCCTGGCGCTGGTGGGCGCCATGATTGACCAGGTCCTGGAGCTACACCCAGGCGCCCAGCGGCTGCACATCGGGTGTGATGAGGTCTATTACCTCGGAGAGGGGGAGGCCTCGCGCCGGTGGCTACAGCAAGAGCAGAACAGCACGGGGAAGTTGTGCCTGTCACACATGCGGGCGGTGGCCAGCGGCGTGAAGGCCCGGCGCCCCAGCGTGACACCCCTGGTGTGGGACGACATGCTCCGAGACCTGCCTGAGGACCAGCTCGCAGCGTCCGGGGTGCCGCAGCTGGTGGAGCCGGTGCTCTGGGACTACACGGCCGACCTGGATGTGCACGGCAAGGTCCTCCTCATGCAGAAGTACCGGCGGTGCGGCTTTCCGCAGCTGTGGGCAGCCAGTGCCTTCAAGGGTGCCACGGGGCCCAGCCAGGCCGTGCCCCCTGTTGAGCACCACCTCAGGAACCACGTGCAGTGGCTGCAGGTGGCGGGCAGCGGGCCCACGGACTCACTGCAGGGCATCATCCTGACCGGCTGGCAGAGGTACGACCACTACTCTGTGCTGTGCGAGCTGCTGCCCGCAGGAGTCCCGTCCCTGGCCGCCTGCCTGCAGTTGCTTCTACGCGGAGGATTTGATGAAGATGTTAAAGCGAAAGTGGAGAACCTTCTCGGGATTTCCAGCCTGGAAAAAACGGACCCTGGCTCTCCGCAGGGAGGGGGCCGGCTCCTTCCCTGGCAGCAACATCCTTGCCCTTGTCACACAAGTCAGCCTCCATCTGCGCAGCTCTGTGGATGCGCTGCTGGAGGGCAACAGGTATGTCACTGGCTGGTTCAGCCCCTACCACCGCCAGCGGAAGCTCATCCACCCGGTCATGGTTCAGCACATCCAGCCCGCAGCGCTCAGCCTCCTGGCACAGTGGAGCACCCTCGTGCAGGAGCTGGAGGCTGCCCTGCAGCTGGCTTTCTACCCGGATGCCGTGGAGGAGTGGCTGGAGGAAAACGTGCACCCCAGCCTGCAGCGGCTGCAAGCTCTGCTGCAGGACCTCAGCGAGGTGTCTGCCCCCCCGCTGCCACCCACCAGCCCTGGCAGGGACGTTGCTCAGGACCCCTGAGGGGAGAGCTCATGCCAGGGGGCTCCTGCTGGAGGCTGGGGGGGCTCTGCACTGCCAAATGGCCTGGGCAATACGGGCCCACGTGGGCGTCGTGCCCTCTGGCCCAGCAGTGTCTTGCCCACACTCAGTTCCTGAGGGCCCTGGGCAGCCCCTGGGGGAGAGACTAG
Amino sequence
MSGSTPFQMRLVHLDLKGAPPKVSYLSEIFPLFRALGANGLLIEYEDMFPYEGPLRLLRAKYAYSPSEIKEILHLAGLNELEVIPLVQTFGHMEFVLKHTAFAHLREVGSFPCTLNPHEAESLALVGAMIDQVLELHPGAQRLHIGCDEVYYLGEGEASRRWLQQEQNSTGKLCLSHMRAVASGVKARRPSVTPLVWDDMLRDLPEDQLAASGVPQLVEPVLWDYTADLDVHGKVLLMQKYRRCGFPQLWAASAFKGATGPSQAVPPVEHHLRNHVQWLQVAGSGPTDSLQGIILTGWQRYDHYSVLCELLPAGVPSLAACLQLLLRGGFDEDVKAKVENLLGISSLEKTDPGSPQGGGRLLPWQQHPCPCHTSQPPSAQLCGCAAGGQQVCHWLVQPLPPPAEAHPPGHGSAHPARSAQPPGTVEHPRAGAGGCPAAGFLPGCRGGVAGGKRAPQPAAAASSAAGPQRGVCPPAATHQPWQGRCSGPLRGELMPGGSCWRLGGLCTAKWPGQYGPTWASCPLAQQCLAHTQFLRALGSPWGRD*