{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA252463",
  "communityStandardTitle": [
    "NM_000019.4(ACAT1):c.2T>A (p.Met1Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17877[alleleid]",
        "alleleId": 17877,
        "preferredName": "NM_000019.4(ACAT1):c.2T>A (p.Met1Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2838",
        "RCV": [
          "RCV000002972"
        ],
        "variationId": 2838
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.107992335T>A?assembly=hg19",
        "id": "chr11:g.107992335T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108121608T>A?assembly=hg38",
        "id": "chr11:g.108121608T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/120074142",
        "rs": 120074142
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108121608-T-A?dataset=gnomad_r4",
        "id": "11-108121608-T-A",
        "variant": "11:108121608 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108121608,
          "referenceAllele": "T",
          "start": 108121607
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108121608T>A",
        "CM000673.2:g.108121608T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 107992335,
          "referenceAllele": "T",
          "start": 107992334
        }
      ],
      "hgvs": [
        "NC_000011.9:g.107992335T>A",
        "CM000673.1:g.107992335T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 107497545,
          "referenceAllele": "T",
          "start": 107497544
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107497545T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5078,
          "referenceAllele": "T",
          "start": 5077
        }
      ],
      "hgvs": [
        "NG_009888.1:g.5078T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9904,
          "referenceAllele": "T",
          "start": 9903
        }
      ],
      "hgvs": [
        "NG_009888.2:g.9904T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706100"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000265838.9:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265838.4:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000265838.4:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742890",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265838.9:c.2T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000019.4:c.2T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265838.4:p.Met1Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000010.1:p.Met1Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16,
          "referenceAllele": "T",
          "start": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672008.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500499.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000500499.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672031.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500463.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000500463.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 208,
          "endIntronDirection": "+",
          "endIntronOffset": 4706,
          "referenceAllele": "T",
          "start": 208,
          "startIntronDirection": "+",
          "startIntronOffset": 4705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672284.1:c.-199+4706T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500444.1:n.-199+4706T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37,
          "referenceAllele": "T",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672354.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500490.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000500490.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672367.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500209.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000500209.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 56,
          "referenceAllele": "T",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672580.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500366.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000500366.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672907.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500928.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000500928.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000673531.1:c.-363T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500163.1:n.-363T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 93,
          "referenceAllele": "T",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000265838.8:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265838.4:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000265838.4:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000299355.10:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299355.6:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000299355.6:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000524833.5:n.42T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350933"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25,
          "referenceAllele": "T",
          "start": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000531813.5:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435965.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000435965.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA252464",
      "coordinates": [
        {
          "allele": "A",
          "end": 78,
          "referenceAllele": "T",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_000019.3:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000010.1:p.Met1Lys",
        "hgvsWellDefined": "NP_000010.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63,
          "referenceAllele": "T",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_017017681.1:c.-363T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873170.1:n.-363T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_017017682.2:c.-276T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873171.1:n.-276T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41,
          "referenceAllele": "T",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_017017683.2:c.-370T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873172.1:n.-370T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 198,
          "endIntronDirection": "+",
          "endIntronOffset": 4706,
          "referenceAllele": "T",
          "start": 198,
          "startIntronDirection": "+",
          "startIntronOffset": 4705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_024448512.1:c.-199+4706T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304280.1:n.-199+4706T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA252464",
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_000019.4:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000010.1:p.Met1Lys",
        "hgvsWellDefined": "NP_000010.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674670",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265838.9:c.2T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000019.4:c.2T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265838.4:p.Met1Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000010.1:p.Met1Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386677.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373606.1:p.Met1Lys",
        "hgvsWellDefined": "NP_001373606.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386678.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373607.1:p.Met1Lys",
        "hgvsWellDefined": "NP_001373607.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386679.1:c.-276T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373608.1:n.-276T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 198,
          "endIntronDirection": "+",
          "endIntronOffset": 4706,
          "referenceAllele": "T",
          "start": 198,
          "startIntronDirection": "+",
          "startIntronOffset": 4705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386681.1:c.-199+4706T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373610.1:n.-199+4706T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 198,
          "endIntronDirection": "+",
          "endIntronOffset": 4706,
          "referenceAllele": "T",
          "start": 198,
          "startIntronDirection": "+",
          "startIntronOffset": 4705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386682.1:c.-416+4706T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373611.1:n.-416+4706T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386685.1:c.-363T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373614.1:n.-363T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386686.1:c.-368T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373615.1:n.-368T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NR_170162.1:n.42T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NR_170163.1:n.42T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732464"
    }
  ],
  "type": "nucleotide"
}