{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA144139", "communityStandardTitle": [ "NM_000274.4(OAT):c.1307T>A (p.Ile436Asn)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70754[alleleid]", "alleleId": 70754, "preferredName": "NM_000274.4(OAT):c.1307T>A (p.Ile436Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56115", "RCV": [ "RCV000049524", "RCV003317066" ], "variationId": 56115 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-126086524-A-T", "id": "10-126086524-A-T", "variant": "10:126086524 A / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.126086524A>T?assembly=hg19", "id": "chr10:g.126086524A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.124397955A>T?assembly=hg38", "id": "chr10:g.124397955A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/386833598", "rs": 386833598 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-126086524-A-T?dataset=gnomad_r2_1", "id": "10-126086524-A-T", "variant": "10:126086524 A / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-124397955-A-T?dataset=gnomad_r3", "id": "10-124397955-A-T", "variant": "10:124397955 A / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-124397955-A-T?dataset=gnomad_r4", "id": "10-124397955-A-T", "variant": "10:124397955 A / T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 124397955, "referenceAllele": "A", "start": 124397954 } ], "hgvs": [ "NC_000010.11:g.124397955A>T", "CM000672.2:g.124397955A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 126086524, "referenceAllele": "A", "start": 126086523 } ], "hgvs": [ "NC_000010.10:g.126086524A>T", "CM000672.1:g.126086524A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 126076514, "referenceAllele": "A", "start": 126076513 } ], "hgvs": [ "NC_000010.9:g.126076514A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 25996, "referenceAllele": "T", "start": 25995 } ], "hgvs": [ "NG_008861.1:g.25996T>A", "LRG_685:g.25996T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001256" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1387, "referenceAllele": "T", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000368845.6:c.1307T>A" ], "proteinEffect": { "hgvs": "ENSP00000357838.5:p.Ile436Asn", "hgvsWellDefined": "ENSP00000357838.5:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS750301", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368845.6:c.1307T>A" }, "RefSeq": { "hgvs": "NM_000274.4:c.1307T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357838.5:p.Ile436Asn" }, "RefSeq": { "hgvs": "NP_000265.1:p.Ile436Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 1400, "referenceAllele": "T", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000368845.5:c.1307T>A" ], "proteinEffect": { "hgvs": "ENSP00000357838.5:p.Ile436Asn", "hgvsWellDefined": "ENSP00000357838.5:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS267213" }, { "coordinates": [ { "allele": "A", "end": 1212, "referenceAllele": "T", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000539214.5:c.893T>A" ], "proteinEffect": { "hgvs": "ENSP00000439042.1:p.Ile298Asn", "hgvsWellDefined": "ENSP00000439042.1:p.Ile298Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS361734" }, { "@id": "http://reg.genome.network/allele/PA103950", "coordinates": [ { "allele": "A", "end": 1440, "referenceAllele": "T", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_000274.3:c.1307T>A", "LRG_685t1:c.1307T>A" ], "proteinEffect": { "hgvs": "NP_000265.1:p.Ile436Asn", "hgvsWellDefined": "NP_000265.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS006336" }, { "@id": "http://reg.genome.network/allele/PA2826089968", "coordinates": [ { "allele": "A", "end": 1212, "referenceAllele": "T", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001171814.1:c.893T>A" ], "proteinEffect": { "hgvs": "NP_001165285.1:p.Ile298Asn", "hgvsWellDefined": "NP_001165285.1:p.Ile298Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS015368" }, { "coordinates": [ { "allele": "A", "end": 1474, "referenceAllele": "T", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_006717871.2:c.1307T>A" ], "proteinEffect": { "hgvs": "XP_006717934.1:p.Ile436Asn", "hgvsWellDefined": "XP_006717934.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS072355" }, { "coordinates": [ { "allele": "A", "end": 1543, "referenceAllele": "T", "start": 1542 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_011539833.1:c.1307T>A" ], "proteinEffect": { "hgvs": "XP_011538135.1:p.Ile436Asn", "hgvsWellDefined": "XP_011538135.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS106783" }, { "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "T", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_011539834.1:c.1307T>A" ], "proteinEffect": { "hgvs": "XP_011538136.1:p.Ile436Asn", "hgvsWellDefined": "XP_011538136.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS106784" }, { "@id": "http://reg.genome.network/allele/PA2827181132", "coordinates": [ { "allele": "A", "end": 1435, "referenceAllele": "T", "start": 1434 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322965.1:c.1307T>A" ], "proteinEffect": { "hgvs": "NP_001309894.1:p.Ile436Asn", "hgvsWellDefined": "NP_001309894.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS515201" }, { "@id": "http://reg.genome.network/allele/PA2827181495", "coordinates": [ { "allele": "A", "end": 1755, "referenceAllele": "T", "start": 1754 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322966.1:c.1307T>A" ], "proteinEffect": { "hgvs": "NP_001309895.1:p.Ile436Asn", "hgvsWellDefined": "NP_001309895.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS515202" }, { "@id": "http://reg.genome.network/allele/PA2827181858", "coordinates": [ { "allele": "A", "end": 1560, "referenceAllele": "T", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322967.1:c.1307T>A" ], "proteinEffect": { "hgvs": "NP_001309896.1:p.Ile436Asn", "hgvsWellDefined": "NP_001309896.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS515203" }, { "@id": "http://reg.genome.network/allele/PA2827182221", "coordinates": [ { "allele": "A", "end": 1647, "referenceAllele": "T", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322968.1:c.1307T>A" ], "proteinEffect": { "hgvs": "NP_001309897.1:p.Ile436Asn", "hgvsWellDefined": "NP_001309897.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS515204" }, { "@id": "http://reg.genome.network/allele/PA2827182584", "coordinates": [ { "allele": "A", "end": 1527, "referenceAllele": "T", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322969.1:c.1307T>A" ], "proteinEffect": { "hgvs": "NP_001309898.1:p.Ile436Asn", "hgvsWellDefined": "NP_001309898.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS515205" }, { "@id": "http://reg.genome.network/allele/PA916026758", "coordinates": [ { "allele": "A", "end": 1743, "referenceAllele": "T", "start": 1742 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322970.1:c.1307T>A" ], "proteinEffect": { "hgvs": "NP_001309899.1:p.Ile436Asn", "hgvsWellDefined": "NP_001309899.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS515206" }, { "@id": "http://reg.genome.network/allele/PA2827183093", "coordinates": [ { "allele": "A", "end": 1119, "referenceAllele": "T", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322971.1:c.986T>A" ], "proteinEffect": { "hgvs": "NP_001309900.1:p.Ile329Asn", "hgvsWellDefined": "NP_001309900.1:p.Ile329Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS515207" }, { "@id": "http://reg.genome.network/allele/PA2827183275", "coordinates": [ { "allele": "A", "end": 1326, "referenceAllele": "T", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322974.1:c.707T>A" ], "proteinEffect": { "hgvs": "NP_001309903.1:p.Ile236Asn", "hgvsWellDefined": "NP_001309903.1:p.Ile236Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS515208" }, { "coordinates": [ { "allele": "A", "end": 3235, "referenceAllele": "T", "start": 3234 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_017016279.1:c.707T>A" ], "proteinEffect": { "hgvs": "XP_016871768.1:p.Ile236Asn", "hgvsWellDefined": "XP_016871768.1:p.Ile236Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS568769" }, { "@id": "http://reg.genome.network/allele/PA103950", "coordinates": [ { "allele": "A", "end": 1387, "referenceAllele": "T", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_000274.4:c.1307T>A" ], "proteinEffect": { "hgvs": "NP_000265.1:p.Ile436Asn", "hgvsWellDefined": "NP_000265.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS674772", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368845.6:c.1307T>A" }, "RefSeq": { "hgvs": "NM_000274.4:c.1307T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357838.5:p.Ile436Asn" }, "RefSeq": { "hgvs": "NP_000265.1:p.Ile436Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2827181132", "coordinates": [ { "allele": "A", "end": 1382, "referenceAllele": "T", "start": 1381 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322965.2:c.1307T>A" ], "proteinEffect": { "hgvs": "NP_001309894.1:p.Ile436Asn", "hgvsWellDefined": "NP_001309894.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS685878" }, { "@id": "http://reg.genome.network/allele/PA2827181495", "coordinates": [ { "allele": "A", "end": 1702, "referenceAllele": "T", "start": 1701 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322966.2:c.1307T>A" ], "proteinEffect": { "hgvs": "NP_001309895.1:p.Ile436Asn", "hgvsWellDefined": "NP_001309895.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS685879" }, { "@id": "http://reg.genome.network/allele/PA2827181858", "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "T", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322967.2:c.1307T>A" ], "proteinEffect": { "hgvs": "NP_001309896.1:p.Ile436Asn", "hgvsWellDefined": "NP_001309896.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS685880" }, { "@id": "http://reg.genome.network/allele/PA2827182221", "coordinates": [ { "allele": "A", "end": 1594, "referenceAllele": "T", "start": 1593 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322968.2:c.1307T>A" ], "proteinEffect": { "hgvs": "NP_001309897.1:p.Ile436Asn", "hgvsWellDefined": "NP_001309897.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS685881" }, { "@id": "http://reg.genome.network/allele/PA2827182584", "coordinates": [ { "allele": "A", "end": 1474, "referenceAllele": "T", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322969.2:c.1307T>A" ], "proteinEffect": { "hgvs": "NP_001309898.1:p.Ile436Asn", "hgvsWellDefined": "NP_001309898.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS685882" }, { "@id": "http://reg.genome.network/allele/PA916026758", "coordinates": [ { "allele": "A", "end": 1690, "referenceAllele": "T", "start": 1689 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322970.2:c.1307T>A" ], "proteinEffect": { "hgvs": "NP_001309899.1:p.Ile436Asn", "hgvsWellDefined": "NP_001309899.1:p.Ile436Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS685883" }, { "@id": "http://reg.genome.network/allele/PA2827183093", "coordinates": [ { "allele": "A", "end": 1066, "referenceAllele": "T", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322971.2:c.986T>A" ], "proteinEffect": { "hgvs": "NP_001309900.1:p.Ile329Asn", "hgvsWellDefined": "NP_001309900.1:p.Ile329Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS685884" }, { "@id": "http://reg.genome.network/allele/PA2827183275", "coordinates": [ { "allele": "A", "end": 1273, "referenceAllele": "T", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322974.2:c.707T>A" ], "proteinEffect": { "hgvs": "NP_001309903.1:p.Ile236Asn", "hgvsWellDefined": "NP_001309903.1:p.Ile236Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS685885" }, { "@id": "http://reg.genome.network/allele/PA2826089968", "coordinates": [ { "allele": "A", "end": 1159, "referenceAllele": "T", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001171814.2:c.893T>A" ], "proteinEffect": { "hgvs": "NP_001165285.1:p.Ile298Asn", "hgvsWellDefined": "NP_001165285.1:p.Ile298Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS713386" } ], "type": "nucleotide" }