ENST00000638121.1 CHML

Information
Transcript ID
ENST00000638121.1
Genome
hg38
Position
chr1:241,635,527-241,640,254
Strand
-
CDS length
414
Amino acid length
138
Gene symbol
CHML
Gene type
protein-coding
Gene description
CHM like Rab escort protein
Gene Entrez Gene ID
1122
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
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Target data :
MGeND data only
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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
2 241,635,527 241,636,073
1 241,639,882 241,640,254
CDS
Exon number Type Start Stop
2 CDS 241,636,033 241,636,073
1 CDS 241,639,882 241,640,254
Other genome
Genome Chromosome Start End Links
hg19 chr1 241,798,829 241,803,556 Link
CDS sequence
ATGTACTCGGGGAACCGCAGCGGCGGCCACGGCTACTGGGACGGCGGCGGGGCCGCGGGCGCTGAGGGGCCGGCGCCGGCGGGGACACTGAGCCCCGCGCCCCTCTTCAGCCCCGGCACCTACGAGCGCCTGGCGCTGCTGCTGGGCTCCATTGGGCTGCTGGGCGTCGGCAACAACCTGCTGGTGCTCGTCCTCTACTACAAGTTCCAGCGGCTCCGCACTCCCACTCACCTCCTCCTGGTCAACATCAGCCTCAGCGACCTGCTGGTGTCCCTCTTCGGGGTCACCTTTACCTTCGTGTCCTGCCTGAGGAACGGCTGGGTGTGGGACACCGTGGGCTGCGTGTGGGACGGGTTTAGCGGCAGCCTCTTCGAGAAGAGTTCCAGTCACAAATGCATATATGATGCATTTTGA
Amino sequence
MYSGNRSGGHGYWDGGGAAGAEGPAPAGTLSPAPLFSPGTYERLALLLGSIGLLGVGNNLLVLVLYYKFQRLRTPTHLLLVNISLSDLLVSLFGVTFTFVSCLRNGWVWDTVGCVWDGFSGSLFEKSSSHKCIYDAF*