ENST00000644009.1 HEXD

Information
Transcript ID
ENST00000644009.1
Genome
hg38
Position
chr17:82,419,800-82,442,384
Strand
+
CDS length
1,461
Amino acid length
487
Gene symbol
HEXD
Gene type
protein-coding
Gene description
hexosaminidase D
Gene Entrez Gene ID
284004
Variants

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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
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 82,419,800 82,419,883
2 82,424,394 82,424,503
3 82,428,558 82,428,645
4 82,433,658 82,433,822
5 82,435,689 82,435,872
6 82,436,667 82,436,738
7 82,437,168 82,437,363
8 82,439,631 82,439,713
9 82,440,997 82,441,075
10 82,441,165 82,441,266
11 82,441,800 82,441,889
12 82,442,177 82,442,384
CDS
Exon number Type Start Stop
1 CDS 82,419,800 82,419,883
2 CDS 82,424,394 82,424,503
3 CDS 82,428,558 82,428,645
4 CDS 82,433,658 82,433,822
5 CDS 82,435,689 82,435,872
6 CDS 82,436,667 82,436,738
7 CDS 82,437,168 82,437,363
8 CDS 82,439,631 82,439,713
9 CDS 82,440,997 82,441,075
10 CDS 82,441,165 82,441,266
11 CDS 82,441,800 82,441,889
12 CDS 82,442,177 82,442,384
Other genome
Genome Chromosome Start End Links
hg19 chr17 80,377,676 80,400,260 Link
CDS sequence
ATGTCAGGTTCCACTCCATTTCAGATGAGATTAGTTCATTTAGACCTTAAAGGAGCTCCACCAAAGGTCTCGTACCTCTCAGAGATTTTTCCTCTGTTCCGTGCGCTAGGTGCAAACGGCCTCCTCATTGAGTATGAAGACATGTTTCCCTACGAGGGCCCTCTGAGGCTGCTGAGGGCCAAGTACGCCTACAGCCCCTCTGAAATCAAAGAGATCTTGCATCTGGCTGGACTCAATGAGCTGGAGGTGATTCCCTTGGTGCAGACATTTGGACACATGGAGTTTGTGCTGAAGCACACGGCCTTCGCCCACCTGCGGGAGGTGGGCTCCTTCCCCTGCACCCTGAACCCCCACGAGGCAGAGTCCCTGGCGCTGGTGGGCGCCATGATTGACCAGGTCCTGGAGCTACACCCAGGCGCCCAGCGGCTGCACATCGGGTGTGATGAGGTCTATTACCTCGGAGAGGGGGAGGCCTCGCGCCGGTGGCTACAGCAAGAGCAGAACAGCACGGGGAAGTTGTGCCTGTCACACATGCGGGCGGTGGCCAGCGGCGTGAAGGCCCGGCGCCCCAGCGTGACACCCCTGGTGTGGGACGACATGCTCCGAGACCTGCCTGAGGACCAGCTCGCAGCGTCCGGGGTGCCGCAGCTGGTGGAGCCGGTGCTCTGGGACTACACGGCCGACCTGGATGTGCACGGCAAGGTCCTCCTCATGCAGAAGTACCGGCGGTGCGGCTTTCCGCAGCTGTGGGCAGCCAGTGCCTTCAAGGGTGCCACGGGGCCCAGCCAGGCCGTGCCCCCTGTTGAGCACCACCTCAGGAACCACGTGCAGTGGCTGCAGGTGGCGGGCAGCGGGCCCACGGACTCACTGCAGGGCATCATCCTGACCGGCTGGCAGAGGTACGACCACTACTCTGTGCTGTGCGAGCTGCTGCCCGCAGGAGTCCCGTCCCTGGCCGCCTGCCTGCAGTTGCTTCTACGCGGAGGATTTGATGAAGATGTTAAAGCGAAAGTGGAGAACCTTCTCGGGATTTCCAGCCTGGAAAAAACGGACCCTGTTAGGGAGGGGGCCGGCTCCTTCCCTGGCAGCAACATCCTTGCCCTTGTCACACAAGTCAGCCTCCATCTGCGCAGCTCTGTGGATGCGCTGCTGGAGGGCAACAGGTATGTCACTGGCTGGTTCAGCCCCTACCACCGCCAGCGGAAGCTCATCCACCCGGTCATGGTTCAGCACATCCAGCCCGCAGCGCTCAGCCTCCTGGCACAGTGGAGCACCCTCGTGCAGGAGCTGGAGGCTGCCCTGCAGCTGGCTTTCTACCCGGATGCCGTGGAGGAGTGGCTGGAGGAAAACGTGCACCCCAGCCTGCAGCGGCTGCAAGCTCTGCTGCAGGACCTCAGCGAGGTGTCTGCCCCCCCGCTGCCACCCACCAGCCCTGGCAGGGACGTTGCTCAGGACCCCTGA
Amino sequence
MSGSTPFQMRLVHLDLKGAPPKVSYLSEIFPLFRALGANGLLIEYEDMFPYEGPLRLLRAKYAYSPSEIKEILHLAGLNELEVIPLVQTFGHMEFVLKHTAFAHLREVGSFPCTLNPHEAESLALVGAMIDQVLELHPGAQRLHIGCDEVYYLGEGEASRRWLQQEQNSTGKLCLSHMRAVASGVKARRPSVTPLVWDDMLRDLPEDQLAASGVPQLVEPVLWDYTADLDVHGKVLLMQKYRRCGFPQLWAASAFKGATGPSQAVPPVEHHLRNHVQWLQVAGSGPTDSLQGIILTGWQRYDHYSVLCELLPAGVPSLAACLQLLLRGGFDEDVKAKVENLLGISSLEKTDPVREGAGSFPGSNILALVTQVSLHLRSSVDALLEGNRYVTGWFSPYHRQRKLIHPVMVQHIQPAALSLLAQWSTLVQELEAALQLAFYPDAVEEWLEENVHPSLQRLQALLQDLSEVSAPPLPPTSPGRDVAQDP*