{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA113962", "communityStandardTitle": [ "NM_000274.4(OAT):c.162C>A (p.Asn54Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15202[alleleid]", "alleleId": 15202, "preferredName": "NM_000274.4(OAT):c.162C>A (p.Asn54Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/163", "RCV": [ "RCV000000186" ], "variationId": 163 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-126100579-G-T", "id": "10-126100579-G-T", "variant": "10:126100579 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.126100579G>T?assembly=hg19", "id": "chr10:g.126100579G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.124412010G>T?assembly=hg38", "id": "chr10:g.124412010G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121965048", "rs": 121965048 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-126100579-G-T?dataset=gnomad_r2_1", "id": "10-126100579-G-T", "variant": "10:126100579 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-124412010-G-T?dataset=gnomad_r3", "id": "10-124412010-G-T", "variant": "10:124412010 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-124412010-G-T?dataset=gnomad_r4", "id": "10-124412010-G-T", "variant": "10:124412010 G / T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 124412010, "referenceAllele": "G", "start": 124412009 } ], "hgvs": [ "NC_000010.11:g.124412010G>T", "CM000672.2:g.124412010G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 126100579, "referenceAllele": "G", "start": 126100578 } ], "hgvs": [ "NC_000010.10:g.126100579G>T", "CM000672.1:g.126100579G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 126090569, "referenceAllele": "G", "start": 126090568 } ], "hgvs": [ "NC_000010.9:g.126090569G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 11941, "referenceAllele": "C", "start": 11940 } ], "hgvs": [ "NG_008861.1:g.11941C>A", "LRG_685:g.11941C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001256" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 242, "referenceAllele": "C", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000368845.6:c.162C>A" ], "proteinEffect": { "hgvs": "ENSP00000357838.5:p.Asn54Lys", "hgvsWellDefined": "ENSP00000357838.5:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS750301", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368845.6:c.162C>A" }, "RefSeq": { "hgvs": "NM_000274.4:c.162C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357838.5:p.Asn54Lys" }, "RefSeq": { "hgvs": "NP_000265.1:p.Asn54Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 255, "referenceAllele": "C", "start": 254 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000368845.5:c.162C>A" ], "proteinEffect": { "hgvs": "ENSP00000357838.5:p.Asn54Lys", "hgvsWellDefined": "ENSP00000357838.5:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS267213" }, { "coordinates": [ { "allele": "A", "end": 227, "referenceAllele": "C", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000476917.5:n.227C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317854" }, { "coordinates": [ { "allele": "A", "end": 398, "referenceAllele": "C", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000490096.5:n.398C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS328009" }, { "coordinates": [ { "allele": "A", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000492376.1:n.510C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329770" }, { "coordinates": [ { "allele": "A", "end": 104, "endIntronDirection": "-", "endIntronOffset": 3044, "referenceAllele": "C", "start": 104, "startIntronDirection": "-", "startIntronOffset": 3045 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000539214.5:c.-215-3045C>A" ], "proteinEffect": { "hgvs": "ENSP00000439042.1:n.-215-3045C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS361734" }, { "@id": "http://reg.genome.network/allele/PA103822", "coordinates": [ { "allele": "A", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_000274.3:c.162C>A", "LRG_685t1:c.162C>A" ], "proteinEffect": { "hgvs": "NP_000265.1:p.Asn54Lys", "hgvsWellDefined": "NP_000265.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006336" }, { "coordinates": [ { "allele": "A", "end": 104, "endIntronDirection": "-", "endIntronOffset": 3044, "referenceAllele": "C", "start": 104, "startIntronDirection": "-", "startIntronOffset": 3045 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001171814.1:c.-215-3045C>A" ], "proteinEffect": { "hgvs": "NP_001165285.1:n.-215-3045C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015368" }, { "coordinates": [ { "allele": "A", "end": 329, "referenceAllele": "C", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_006717871.2:c.162C>A" ], "proteinEffect": { "hgvs": "XP_006717934.1:p.Asn54Lys", "hgvsWellDefined": "XP_006717934.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS072355" }, { "coordinates": [ { "allele": "A", "end": 398, "referenceAllele": "C", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_011539833.1:c.162C>A" ], "proteinEffect": { "hgvs": "XP_011538135.1:p.Asn54Lys", "hgvsWellDefined": "XP_011538135.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106783" }, { "coordinates": [ { "allele": "A", "end": 311, "referenceAllele": "C", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_011539834.1:c.162C>A" ], "proteinEffect": { "hgvs": "XP_011538136.1:p.Asn54Lys", "hgvsWellDefined": "XP_011538136.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106784" }, { "@id": "http://reg.genome.network/allele/PA2827180813", "coordinates": [ { "allele": "A", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322965.1:c.162C>A" ], "proteinEffect": { "hgvs": "NP_001309894.1:p.Asn54Lys", "hgvsWellDefined": "NP_001309894.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS515201" }, { "@id": "http://reg.genome.network/allele/PA2827181176", "coordinates": [ { "allele": "A", "end": 610, "referenceAllele": "C", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322966.1:c.162C>A" ], "proteinEffect": { "hgvs": "NP_001309895.1:p.Asn54Lys", "hgvsWellDefined": "NP_001309895.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS515202" }, { "@id": "http://reg.genome.network/allele/PA2827181539", "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322967.1:c.162C>A" ], "proteinEffect": { "hgvs": "NP_001309896.1:p.Asn54Lys", "hgvsWellDefined": "NP_001309896.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS515203" }, { "@id": "http://reg.genome.network/allele/PA2827181902", "coordinates": [ { "allele": "A", "end": 502, "referenceAllele": "C", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322968.1:c.162C>A" ], "proteinEffect": { "hgvs": "NP_001309897.1:p.Asn54Lys", "hgvsWellDefined": "NP_001309897.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS515204" }, { "@id": "http://reg.genome.network/allele/PA2827182265", "coordinates": [ { "allele": "A", "end": 382, "referenceAllele": "C", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322969.1:c.162C>A" ], "proteinEffect": { "hgvs": "NP_001309898.1:p.Asn54Lys", "hgvsWellDefined": "NP_001309898.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS515205" }, { "@id": "http://reg.genome.network/allele/PA2827182629", "coordinates": [ { "allele": "A", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322970.1:c.162C>A" ], "proteinEffect": { "hgvs": "NP_001309899.1:p.Asn54Lys", "hgvsWellDefined": "NP_001309899.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS515206" }, { "@id": "http://reg.genome.network/allele/PA916026764", "coordinates": [ { "allele": "A", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322971.1:c.162C>A" ], "proteinEffect": { "hgvs": "NP_001309900.1:p.Asn54Lys", "hgvsWellDefined": "NP_001309900.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS515207" }, { "coordinates": [ { "allele": "A", "end": 104, "endIntronDirection": "-", "endIntronOffset": 3044, "referenceAllele": "C", "start": 104, "startIntronDirection": "-", "startIntronOffset": 3045 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322974.1:c.-515-3045C>A" ], "proteinEffect": { "hgvs": "NP_001309903.1:n.-515-3045C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS515208" }, { "coordinates": [ { "allele": "A", "end": 237, "referenceAllele": "C", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_017016279.1:c.-2292C>A" ], "proteinEffect": { "hgvs": "XP_016871768.1:n.-2292C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS568769" }, { "@id": "http://reg.genome.network/allele/PA103822", "coordinates": [ { "allele": "A", "end": 242, "referenceAllele": "C", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_000274.4:c.162C>A" ], "proteinEffect": { "hgvs": "NP_000265.1:p.Asn54Lys", "hgvsWellDefined": "NP_000265.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS674772", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368845.6:c.162C>A" }, "RefSeq": { "hgvs": "NM_000274.4:c.162C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357838.5:p.Asn54Lys" }, "RefSeq": { "hgvs": "NP_000265.1:p.Asn54Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2827180813", "coordinates": [ { "allele": "A", "end": 237, "referenceAllele": "C", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322965.2:c.162C>A" ], "proteinEffect": { "hgvs": "NP_001309894.1:p.Asn54Lys", "hgvsWellDefined": "NP_001309894.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685878" }, { "@id": "http://reg.genome.network/allele/PA2827181176", "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322966.2:c.162C>A" ], "proteinEffect": { "hgvs": "NP_001309895.1:p.Asn54Lys", "hgvsWellDefined": "NP_001309895.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685879" }, { "@id": "http://reg.genome.network/allele/PA2827181539", "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "C", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322967.2:c.162C>A" ], "proteinEffect": { "hgvs": "NP_001309896.1:p.Asn54Lys", "hgvsWellDefined": "NP_001309896.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685880" }, { "@id": "http://reg.genome.network/allele/PA2827181902", "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322968.2:c.162C>A" ], "proteinEffect": { "hgvs": "NP_001309897.1:p.Asn54Lys", "hgvsWellDefined": "NP_001309897.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685881" }, { "@id": "http://reg.genome.network/allele/PA2827182265", "coordinates": [ { "allele": "A", "end": 329, "referenceAllele": "C", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322969.2:c.162C>A" ], "proteinEffect": { "hgvs": "NP_001309898.1:p.Asn54Lys", "hgvsWellDefined": "NP_001309898.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685882" }, { "@id": "http://reg.genome.network/allele/PA2827182629", "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "C", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322970.2:c.162C>A" ], "proteinEffect": { "hgvs": "NP_001309899.1:p.Asn54Lys", "hgvsWellDefined": "NP_001309899.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685883" }, { "@id": "http://reg.genome.network/allele/PA916026764", "coordinates": [ { "allele": "A", "end": 242, "referenceAllele": "C", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322971.2:c.162C>A" ], "proteinEffect": { "hgvs": "NP_001309900.1:p.Asn54Lys", "hgvsWellDefined": "NP_001309900.1:p.Asn54Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685884" }, { "coordinates": [ { "allele": "A", "end": 51, "endIntronDirection": "-", "endIntronOffset": 3044, "referenceAllele": "C", "start": 51, "startIntronDirection": "-", "startIntronOffset": 3045 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322974.2:c.-515-3045C>A" ], "proteinEffect": { "hgvs": "NP_001309903.1:n.-515-3045C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS685885" }, { "coordinates": [ { "allele": "A", "end": 51, "endIntronDirection": "-", "endIntronOffset": 3044, "referenceAllele": "C", "start": 51, "startIntronDirection": "-", "startIntronOffset": 3045 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001171814.2:c.-215-3045C>A" ], "proteinEffect": { "hgvs": "NP_001165285.1:n.-215-3045C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713386" } ], "type": "nucleotide" }