SimpleAminoAcidCanonicalAllele

A stable identifier for a allele instance, grouping together the different ways that the allele might be described across different versions of a particular AminoAcidReferenceSequence.

Scope and Usage

SimpleAminoAcidCanonicalAlleles aggregate different SimpleAminoAcidAlleles that are different representations of the same amino acid variation. SimpleAminoAcidAlleles MAY be aggregated (this is left as an implementation detail to a canonicalizer) when they are:

  • in different versions of the same AminoAcidReferenceSequence.
  • in different AminoAcidReferenceSequences from the same public database, as long as their associated TranscriptReferenceSequence maps to the same Gene
  • in different AminoAcidReferenceSequences from different public databases, as long as their associated TranscriptReferenceSequence maps to the same gene.

Exclusions and Limitations

The amino acid aggregation described here depends upon having alignments of a gene''s associated amino acids, but this alignment is not currently represented in the model.

See Also

SimpleCanonicalAllele, SimpleAminoAcidAllele

Related Resources: CanonicalAllele