Allele/Variant

rs557342298

Species
Homo sapiens
Symbol
rs557342298
Category
Variant
Variant type
SNP
Overlaps
EXOSC5
Location
19:41392962
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000019.10:g.41392962G>A
HGVS.c name
  • ENSEMBL:ENST00000221233.9:c.167C>T
  • ENSEMBL:ENST00000593523.2:n.201C>T
HGVS.p name
  • ENSP00000221233:p.Ala56Val
  • ENSP00000471557:p.Ala56Val
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
Not Available

Genome location
Assembly version
Not Available
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Variant Molecular Consequences

Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
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