{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA365653615", "communityStandardTitle": [ "NM_000045.4(ARG1):c.868A>T (p.Thr290Ser)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.131904947A>T?assembly=hg19", "id": "chr6:g.131904947A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.131583807A>T?assembly=hg38", "id": "chr6:g.131583807A>T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 131583807, "referenceAllele": "A", "start": 131583806 } ], "hgvs": [ "NC_000006.12:g.131583807A>T", "CM000668.2:g.131583807A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 131904947, "referenceAllele": "A", "start": 131904946 } ], "hgvs": [ "NC_000006.11:g.131904947A>T", "CM000668.1:g.131904947A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 131946640, "referenceAllele": "A", "start": 131946639 } ], "hgvs": [ "NC_000006.10:g.131946640A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 15583, "referenceAllele": "A", "start": 15582 } ], "hgvs": [ "NG_007086.2:g.15583A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000466" }, { "coordinates": [ { "allele": "A", "end": 49417, "referenceAllele": "T", "start": 49416 } ], "hgvs": [ "NG_031860.1:g.49417T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004994" }, { "coordinates": [ { "allele": "A", "end": 49417, "referenceAllele": "T", "start": 49416 } ], "hgvs": [ "NG_031860.2:g.49417T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673851" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 925, "referenceAllele": "A", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000368087.8:c.868A>T" ], "proteinEffect": { "hgvs": "ENSP00000357066.3:p.Thr290Ser", "hgvsWellDefined": "ENSP00000357066.3:p.Thr290Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS750140", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368087.8:c.868A>T" }, "RefSeq": { "hgvs": "NM_000045.4:c.868A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357066.3:p.Thr290Ser" }, "RefSeq": { "hgvs": "NP_000036.2:p.Thr290Ser" } } } }, { "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "A", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000640973.1:c.610A>T" ], "proteinEffect": { "hgvs": "ENSP00000492623.1:p.Thr204Ser", "hgvsWellDefined": "ENSP00000492623.1:p.Thr204Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765757" }, { "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "A", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000672233.1:c.814A>T" ], "proteinEffect": { "hgvs": "ENSP00000499826.1:p.Thr272Ser", "hgvsWellDefined": "ENSP00000499826.1:p.Thr272Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS773313" }, { "coordinates": [ { "allele": "T", "end": 1008, "referenceAllele": "A", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000673234.1:c.*755A>T" ], "proteinEffect": { "hgvs": "ENSP00000499885.1:n.*755A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773626" }, { "coordinates": [ { "allele": "T", "end": 667, "referenceAllele": "A", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000673427.1:c.613A>T" ], "proteinEffect": { "hgvs": "ENSP00000500160.1:p.Thr205Ser", "hgvsWellDefined": "ENSP00000500160.1:p.Thr205Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS773675" }, { "coordinates": [ { "allele": "A", "end": 4251, "endIntronDirection": "+", "endIntronOffset": 3902, "referenceAllele": "T", "start": 4251, "startIntronDirection": "+", "startIntronOffset": 3901 } ], "gene": "http://reg.genome.network/gene/GN002372", "geneNCBI_id": 9439, "geneSymbol": "MED23", "hgvs": [ "ENST00000354577.8:c.4095+3902T>A" ], "proteinEffect": { "hgvs": "ENSP00000346588.4:n.4095+3902T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS263173" }, { "coordinates": [ { "allele": "T", "end": 950, "referenceAllele": "A", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000356962.2:c.892A>T" ], "proteinEffect": { "hgvs": "ENSP00000349446.2:p.Thr298Ser", "hgvsWellDefined": "ENSP00000349446.2:p.Thr298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS263936" }, { "coordinates": [ { "allele": "T", "end": 1007, "referenceAllele": "A", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000368087.7:c.868A>T" ], "proteinEffect": { "hgvs": "ENSP00000357066.3:p.Thr290Ser", "hgvsWellDefined": "ENSP00000357066.3:p.Thr290Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS266757" }, { "@id": "http://reg.genome.network/allele/PA339971", "coordinates": [ { "allele": "T", "end": 947, "referenceAllele": "A", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "NM_000045.3:c.868A>T" ], "proteinEffect": { "hgvs": "NP_000036.2:p.Thr290Ser", "hgvsWellDefined": "NP_000036.2:p.Thr290Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006110" }, { "@id": "http://reg.genome.network/allele/PA916008031", "coordinates": [ { "allele": "T", "end": 971, "referenceAllele": "A", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "NM_001244438.1:c.892A>T" ], "proteinEffect": { "hgvs": "NP_001231367.1:p.Thr298Ser", "hgvsWellDefined": "NP_001231367.1:p.Thr298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS018678" }, { "coordinates": [ { "allele": "A", "end": 4267, "endIntronDirection": "+", "endIntronOffset": 3902, "referenceAllele": "T", "start": 4267, "startIntronDirection": "+", "startIntronOffset": 3901 } ], "gene": "http://reg.genome.network/gene/GN002372", "geneNCBI_id": 9439, "geneSymbol": "MED23", "hgvs": [ "NM_001270521.1:c.4077+3902T>A" ], "proteinEffect": { "hgvs": "NP_001257450.1:n.4077+3902T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS020343" }, { "coordinates": [ { "allele": "A", "end": 4285, "endIntronDirection": "+", "endIntronOffset": 3902, "referenceAllele": "T", "start": 4285, "startIntronDirection": "+", "startIntronOffset": 3901 } ], "gene": "http://reg.genome.network/gene/GN002372", "geneNCBI_id": 9439, "geneSymbol": "MED23", "hgvs": [ "NM_015979.3:c.4095+3902T>A" ], "proteinEffect": { "hgvs": "NP_057063.2:n.4095+3902T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS034336" }, { "coordinates": [ { "allele": "T", "end": 693, "referenceAllele": "A", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "XM_011535801.1:c.613A>T" ], "proteinEffect": { "hgvs": "XP_011534103.1:p.Thr205Ser", "hgvsWellDefined": "XP_011534103.1:p.Thr205Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS102803" }, { "coordinates": [ { "allele": "T", "end": 737, "referenceAllele": "A", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "XM_011535801.2:c.613A>T" ], "proteinEffect": { "hgvs": "XP_011534103.1:p.Thr205Ser", "hgvsWellDefined": "XP_011534103.1:p.Thr205Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS552190" }, { "@id": "http://reg.genome.network/allele/PA339971", "coordinates": [ { "allele": "T", "end": 925, "referenceAllele": "A", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "NM_000045.4:c.868A>T" ], "proteinEffect": { "hgvs": "NP_000036.2:p.Thr290Ser", "hgvsWellDefined": "NP_000036.2:p.Thr290Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS674675", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368087.8:c.868A>T" }, "RefSeq": { "hgvs": "NM_000045.4:c.868A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357066.3:p.Thr290Ser" }, "RefSeq": { "hgvs": "NP_000036.2:p.Thr290Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA916008031", "coordinates": [ { "allele": "T", "end": 949, "referenceAllele": "A", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "NM_001244438.2:c.892A>T" ], "proteinEffect": { "hgvs": "NP_001231367.1:p.Thr298Ser", "hgvsWellDefined": "NP_001231367.1:p.Thr298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS680299" }, { "coordinates": [ { "allele": "A", "end": 4270, "endIntronDirection": "+", "endIntronOffset": 3902, "referenceAllele": "T", "start": 4270, "startIntronDirection": "+", "startIntronOffset": 3901 } ], "gene": "http://reg.genome.network/gene/GN002372", "geneNCBI_id": 9439, "geneSymbol": "MED23", "hgvs": [ "NM_001270521.2:c.4077+3902T>A" ], "proteinEffect": { "hgvs": "NP_001257450.1:n.4077+3902T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS681041" }, { "@id": "http://reg.genome.network/allele/PA2828305706", "coordinates": [ { "allele": "T", "end": 670, "referenceAllele": "A", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "NM_001369020.1:c.613A>T" ], "proteinEffect": { "hgvs": "NP_001355949.1:p.Thr205Ser", "hgvsWellDefined": "NP_001355949.1:p.Thr205Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691511" }, { "coordinates": [ { "allele": "A", "end": 4288, "endIntronDirection": "+", "endIntronOffset": 3902, "referenceAllele": "T", "start": 4288, "startIntronDirection": "+", "startIntronOffset": 3901 } ], "gene": "http://reg.genome.network/gene/GN002372", "geneNCBI_id": 9439, "geneSymbol": "MED23", "hgvs": [ "NM_015979.4:c.4095+3902T>A" ], "proteinEffect": { "hgvs": "NP_057063.2:n.4095+3902T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS697639" }, { "coordinates": [ { "allele": "T", "end": 852, "referenceAllele": "A", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "NR_160934.1:n.852A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705240" } ], "type": "nucleotide" }