{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA278633021",
  "communityStandardTitle": [
    "NM_001171.6(ABCC6):c.3188T>G (p.Leu1063Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=426890[alleleid]",
        "alleleId": 426890,
        "preferredName": "NM_001171.6(ABCC6):c.3188T>G (p.Leu1063Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/433304",
        "RCV": [
          "RCV000499128",
          "RCV001851392"
        ],
        "variationId": 433304
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16259598A>C?assembly=hg19",
        "id": "chr16:g.16259598A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16165741A>C?assembly=hg38",
        "id": "chr16:g.16165741A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72657695",
        "rs": 72657695
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16259598-A-C?dataset=gnomad_r2_1",
        "id": "16-16259598-A-C",
        "variant": "16:16259598 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16165741-A-C?dataset=gnomad_r3",
        "id": "16-16165741-A-C",
        "variant": "16:16165741 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16165741-A-C?dataset=gnomad_r4",
        "id": "16-16165741-A-C",
        "variant": "16:16165741 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 16165741,
          "referenceAllele": "A",
          "start": 16165740
        }
      ],
      "hgvs": [
        "NC_000016.10:g.16165741A>C",
        "CM000678.2:g.16165741A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 16259598,
          "referenceAllele": "A",
          "start": 16259597
        }
      ],
      "hgvs": [
        "NC_000016.9:g.16259598A>C",
        "CM000678.1:g.16259598A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 16167099,
          "referenceAllele": "A",
          "start": 16167098
        }
      ],
      "hgvs": [
        "NC_000016.8:g.16167099A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62731,
          "referenceAllele": "T",
          "start": 62730
        }
      ],
      "hgvs": [
        "NG_007558.2:g.62731T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62877,
          "referenceAllele": "T",
          "start": 62876
        }
      ],
      "hgvs": [
        "NG_007558.3:g.62877T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3248,
          "referenceAllele": "T",
          "start": 3247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.5:c.3188T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.2:p.Leu1063Arg",
        "hgvsWellDefined": "ENSP00000483331.2:p.Leu1063Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3248,
          "referenceAllele": "T",
          "start": 3247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.12:c.3188T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Leu1063Arg",
        "hgvsWellDefined": "ENSP00000205557.7:p.Leu1063Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.3188T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.3188T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Leu1063Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Leu1063Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 203,
          "referenceAllele": "T",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000640696.1:c.203T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492197.1:p.Leu68Arg",
        "hgvsWellDefined": "ENSP00000492197.1:p.Leu68Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3218,
          "referenceAllele": "T",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.11:c.3188T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Leu1063Arg",
        "hgvsWellDefined": "ENSP00000205557.7:p.Leu1063Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3013,
          "referenceAllele": "T",
          "start": 3012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000456970.6:c.3013T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405002.2:n.3013T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3050,
          "referenceAllele": "T",
          "start": 3049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.4:c.*397T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.1:n.*397T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645443140",
      "coordinates": [
        {
          "allele": "G",
          "end": 3225,
          "referenceAllele": "T",
          "start": 3224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.5:c.3188T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.4:p.Leu1063Arg",
        "hgvsWellDefined": "NP_001162.4:p.Leu1063Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3385,
          "referenceAllele": "T",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.1:c.3155T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Leu1052Arg",
        "hgvsWellDefined": "XP_011520781.1:p.Leu1052Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089630"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3173,
          "referenceAllele": "T",
          "start": 3172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522480.1:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520782.1:p.Leu949Arg",
        "hgvsWellDefined": "XP_011520782.1:p.Leu949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3358,
          "referenceAllele": "T",
          "start": 3357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.1:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Leu949Arg",
        "hgvsWellDefined": "XP_011520783.1:p.Leu949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089632"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3423,
          "referenceAllele": "T",
          "start": 3422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.1:n.3423T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3424,
          "referenceAllele": "T",
          "start": 3423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.1:n.3424T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128736"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3424,
          "referenceAllele": "T",
          "start": 3423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.1:n.3424T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916031180",
      "coordinates": [
        {
          "allele": "G",
          "end": 3256,
          "referenceAllele": "T",
          "start": 3255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001351800.1:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338729.1:p.Leu949Arg",
        "hgvsWellDefined": "NP_001338729.1:p.Leu949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520461"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3050,
          "referenceAllele": "T",
          "start": 3049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NR_147784.1:n.3050T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3336,
          "referenceAllele": "T",
          "start": 3335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.2:c.3155T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Leu1052Arg",
        "hgvsWellDefined": "XP_011520781.1:p.Leu1052Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3371,
          "referenceAllele": "T",
          "start": 3370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.3:c.2846T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Leu949Arg",
        "hgvsWellDefined": "XP_011520783.1:p.Leu949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3201,
          "referenceAllele": "T",
          "start": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023212.1:c.3020T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878701.1:p.Leu1007Arg",
        "hgvsWellDefined": "XP_016878701.1:p.Leu1007Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3370,
          "referenceAllele": "T",
          "start": 3369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023214.1:c.3188T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878703.1:p.Leu1063Arg",
        "hgvsWellDefined": "XP_016878703.1:p.Leu1063Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3407,
          "referenceAllele": "T",
          "start": 3406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_024450261.1:c.3224T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306029.1:p.Leu1075Arg",
        "hgvsWellDefined": "XP_024306029.1:p.Leu1075Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3369,
          "referenceAllele": "T",
          "start": 3368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.2:n.3369T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3369,
          "referenceAllele": "T",
          "start": 3368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.3:n.3369T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3369,
          "referenceAllele": "T",
          "start": 3368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.3:n.3369T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010784",
      "coordinates": [
        {
          "allele": "G",
          "end": 3248,
          "referenceAllele": "T",
          "start": 3247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.3188T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Leu1063Arg",
        "hgvsWellDefined": "NP_001162.5:p.Leu1063Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.3188T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.3188T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Leu1063Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Leu1063Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}