Mitochondrial genome versions

VarSome correctly maps mitochondrial codons to amino acids,  annotates mitochondrial variants and genes with all databases where data is available and includes the Mitomap database.

VarSome supports the mitochondrial genome with two distinct versions of the human reference genomes:

  • hg19: NC_001807.4

  • GRCh37, hg38 and GRCh38: NC_012920.1

VarSome users the following conventions:

  • hg19: "chrM" = NC_001807.4, "MT" = NC_120920.1
  • hg38: "chrM" = "MT" = NC_120920.1

VarSome lifts over variants from source databases to cover both versions of the mitochondrial genome on hg19/GRCh37. Please note, however, that as for any lift-over on variants, the results may be inaccurate or missing from the target genome.