ENST00000327949.15 HEXD

Information
Transcript ID
ENST00000327949.15
Genome
hg38
Position
chr17:82,418,347-82,442,645
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
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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
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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 82,418,347 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 82,441,075
11 82,441,165 82,441,266
12 82,441,800 82,441,889
13 82,442,177 82,442,645
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 82,441,075
11 CDS 82,441,165 82,441,266
12 CDS 82,441,800 82,441,889
13 CDS 82,442,177 82,442,384
Other genome
Genome Chromosome Start End Links
hg19 chr17 80,376,223 80,400,521 Link
CDS sequence
ATGTCAGGTTCCACTCCATTTCAGATGAGATTAGTTCATTTAGACCTTAAAGGAGCTCCACCAAAGGTCTCGTACCTCTCAGAGATTTTTCCTCTGTTCCGTGCGCTAGGTGCAAACGGCCTCCTCATTGAGTATGAAGACATGTTTCCCTACGAGGGCCCTCTGAGGCTGCTGAGGGCCAAGTACGCCTACAGCCCCTCTGAAATCAAAGAGATCTTGCATCTGGCTGGACTCAATGAGCTGGAGGTGATTCCCTTGGTGCAGACATTTGGACACATGGAGTTTGTGCTGAAGCACACGGCCTTCGCCCACCTGCGGGAGGTGGGCTCCTTCCCCTGCACCCTGAACCCCCACGAGGCAGAGTCCCTGGCGCTGGTGGGCGCCATGATTGACCAGGTCCTGGAGCTACACCCAGGCGCCCAGCGGCTGCACATCGGGTGTGATGAGGTCTATTACCTCGGAGAGGGGGAGGCCTCGCGCCGGTGGCTACAGCAAGAGCAGAACAGCACGGGGAAGTTGTGCCTGTCACACATGCGGGCGGTGGCCAGCGGCGTGAAGGCCCGGCGCCCCAGCGTGACACCCCTGGTGTGGGACGACATGCTCCGAGACCTGCCTGAGGACCAGCTCGCAGCGTCCGGGGTGCCGCAGCTGGTGGAGCCGGTGCTCTGGGACTACACGGCCGACCTGGATGTGCACGGCAAGGTCCTCCTCATGCAGAAGTACCGGCGGTGCGGCTTTCCGCAGCTGTGGGCAGCCAGTGCCTTCAAGGGTGCCACGGGGCCCAGCCAGGCCGTGCCCCCTGTTGAGCACCACCTCAGGAACCACGTGCAGTGGCTGCAGGTGGCGGGCAGCGGGCCCACGGACTCACTGCAGGGCATCATCCTGACCGGCTGGCAGAGGTACGACCACTACTCTGTGCTGTGCGAGCTGCTGCCCGCAGGAGTCCCGTCCCTGGCCGCCTGCCTGCAGTTGCTTCTACGCGGAGGATTTGATGAAGATGTTAAAGCGAAAGTGGAGAACCTTCTCGGGATTTCCAGCCTGGAAAAAACGGACCCTGTTAGGGAGGGGGCCGGCTCCTTCCCTGGCAGCAACATCCTTGCCCTTGTCACACAAGTCAGCCTCCATCTGCGCAGCTCTGTGGATGCGCTGCTGGAGGGCAACAGGTATGTCACTGGCTGGTTCAGCCCCTACCACCGCCAGCGGAAGCTCATCCACCCGGTCATGGTTCAGCACATCCAGCCCGCAGCGCTCAGCCTCCTGGCACAGTGGAGCACCCTCGTGCAGGAGCTGGAGGCTGCCCTGCAGCTGGCTTTCTACCCGGATGCCGTGGAGGAGTGGCTGGAGGAAAACGTGCACCCCAGCCTGCAGCGGCTGCAAGCTCTGCTGCAGGACCTCAGCGAGGTGTCTGCCCCCCCGCTGCCACCCACCAGCCCTGGCAGGGACGTTGCTCAGGACCCCTGA
Amino sequence
MSGSTPFQMRLVHLDLKGAPPKVSYLSEIFPLFRALGANGLLIEYEDMFPYEGPLRLLRAKYAYSPSEIKEILHLAGLNELEVIPLVQTFGHMEFVLKHTAFAHLREVGSFPCTLNPHEAESLALVGAMIDQVLELHPGAQRLHIGCDEVYYLGEGEASRRWLQQEQNSTGKLCLSHMRAVASGVKARRPSVTPLVWDDMLRDLPEDQLAASGVPQLVEPVLWDYTADLDVHGKVLLMQKYRRCGFPQLWAASAFKGATGPSQAVPPVEHHLRNHVQWLQVAGSGPTDSLQGIILTGWQRYDHYSVLCELLPAGVPSLAACLQLLLRGGFDEDVKAKVENLLGISSLEKTDPVREGAGSFPGSNILALVTQVSLHLRSSVDALLEGNRYVTGWFSPYHRQRKLIHPVMVQHIQPAALSLLAQWSTLVQELEAALQLAFYPDAVEEWLEENVHPSLQRLQALLQDLSEVSAPPLPPTSPGRDVAQDP*