{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2210134097", "communityStandardTitle": [ "NM_001171.6(ABCC6):c.4434A= (p.Ala1478=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/72664280", "rs": 72664280 }, { "@id": "http://www.ncbi.nlm.nih.gov/snp/1316012194", "rs": 1316012194 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 16150211, "referenceAllele": "T", "start": 16150210 } ], "hgvs": [ "NC_000016.10:g.16150211T=", "CM000678.2:g.16150211T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 16244068, "referenceAllele": "T", "start": 16244067 } ], "hgvs": [ "NC_000016.9:g.16244068T=", "CM000678.1:g.16244068T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 16151569, "referenceAllele": "T", "start": 16151568 } ], "hgvs": [ "NC_000016.8:g.16151569T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 78261, "referenceAllele": "A", "start": 78260 } ], "hgvs": [ "NG_007558.2:g.78261A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS000648" }, { "coordinates": [ { "allele": "A", "end": 78407, "referenceAllele": "A", "start": 78406 } ], "hgvs": [ "NG_007558.3:g.78407A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS733313" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4557, "referenceAllele": "A", "start": 4556 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000622290.5:c.*606A=" ], "proteinEffect": { "hgvs": "ENSP00000483331.2:n.*606A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS826576" }, { "coordinates": [ { "allele": "A", "end": 4494, "referenceAllele": "A", "start": 4493 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000205557.12:c.4434A=" ], "proteinEffect": { "hgvs": "ENSP00000205557.7:p.Ala1478=" }, "referenceSequence": "http://reg.genome.network/refseq/RS740175", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000205557.12:c.4434A=" }, "RefSeq": { "hgvs": "NM_001171.6:c.4434A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000205557.7:p.Ala1478=" }, "RefSeq": { "hgvs": "NP_001162.5:p.Ala1478=" } } } }, { "coordinates": [ { "allele": "A", "end": 1248, "referenceAllele": "A", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000640696.1:c.1248A=" ], "proteinEffect": { "hgvs": "ENSP00000492197.1:p.Ala416=" }, "referenceSequence": "http://reg.genome.network/refseq/RS765624" }, { "coordinates": [ { "allele": "A", "end": 4464, "referenceAllele": "A", "start": 4463 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000205557.11:c.4434A=" ], "proteinEffect": { "hgvs": "ENSP00000205557.7:p.Ala1478=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247821" }, { "coordinates": [ { "allele": "A", "end": 4059, "referenceAllele": "A", "start": 4058 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000456970.6:c.4059A=" ], "proteinEffect": { "hgvs": "ENSP00000405002.2:n.4059A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS303727" }, { "coordinates": [ { "allele": "A", "end": 1297, "referenceAllele": "A", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000576204.5:n.1297A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS384394" }, { "coordinates": [ { "allele": "A", "end": 4296, "referenceAllele": "A", "start": 4295 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000622290.4:c.*1643A=" ], "proteinEffect": { "hgvs": "ENSP00000483331.1:n.*1643A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS405655" }, { "coordinates": [ { "allele": "A", "end": 4471, "referenceAllele": "A", "start": 4470 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NM_001171.5:c.4434A=" ], "proteinEffect": { "hgvs": "NP_001162.4:p.Ala1478=" }, "referenceSequence": "http://reg.genome.network/refseq/RS015270" }, { "coordinates": [ { "allele": "A", "end": 4631, "referenceAllele": "A", "start": 4630 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522479.1:c.4401A=" ], "proteinEffect": { "hgvs": "XP_011520781.1:p.Ala1467=" }, "referenceSequence": "http://reg.genome.network/refseq/RS089630" }, { "coordinates": [ { "allele": "A", "end": 4419, "referenceAllele": "A", "start": 4418 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522480.1:c.4092A=" ], "proteinEffect": { "hgvs": "XP_011520782.1:p.Ala1364=" }, "referenceSequence": "http://reg.genome.network/refseq/RS089631" }, { "coordinates": [ { "allele": "A", "end": 4604, "referenceAllele": "A", "start": 4603 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522481.1:c.4092A=" ], "proteinEffect": { "hgvs": "XP_011520783.1:p.Ala1364=" }, "referenceSequence": "http://reg.genome.network/refseq/RS089632" }, { "coordinates": [ { "allele": "T", "end": 538, "endIntronDirection": "+", "endIntronOffset": 5921, "referenceAllele": "T", "start": 538, "startIntronDirection": "+", "startIntronOffset": 5920 } ], "hgvs": [ "XR_933134.1:n.538+5921T=" ], "referenceSequence": "http://reg.genome.network/refseq/RS128911" }, { "@id": "http://reg.genome.network/allele/PA2827627719", "coordinates": [ { "allele": "A", "end": 4502, "referenceAllele": "A", "start": 4501 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NM_001351800.1:c.4092A=" ], "proteinEffect": { "hgvs": "NP_001338729.1:p.Ala1364=" }, "referenceSequence": "http://reg.genome.network/refseq/RS520461" }, { "coordinates": [ { "allele": "A", "end": 4096, "referenceAllele": "A", "start": 4095 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NR_147784.1:n.4096A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS530836" }, { "coordinates": [ { "allele": "A", "end": 4582, "referenceAllele": "A", "start": 4581 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522479.2:c.4401A=" ], "proteinEffect": { "hgvs": "XP_011520781.1:p.Ala1467=" }, "referenceSequence": "http://reg.genome.network/refseq/RS546607" }, { "coordinates": [ { "allele": "A", "end": 4617, "referenceAllele": "A", "start": 4616 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522481.3:c.4092A=" ], "proteinEffect": { "hgvs": "XP_011520783.1:p.Ala1364=" }, "referenceSequence": "http://reg.genome.network/refseq/RS546608" }, { "coordinates": [ { "allele": "A", "end": 4447, "referenceAllele": "A", "start": 4446 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_017023212.1:c.4266A=" ], "proteinEffect": { "hgvs": "XP_016878701.1:p.Ala1422=" }, "referenceSequence": "http://reg.genome.network/refseq/RS574012" }, { "coordinates": [ { "allele": "A", "end": 4653, "referenceAllele": "A", "start": 4652 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_024450261.1:c.4470A=" ], "proteinEffect": { "hgvs": "XP_024306029.1:p.Ala1490=" }, "referenceSequence": "http://reg.genome.network/refseq/RS583801" }, { "@id": "http://reg.genome.network/allele/PA2826011170", "coordinates": [ { "allele": "A", "end": 4494, "referenceAllele": "A", "start": 4493 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NM_001171.6:c.4434A=" ], "proteinEffect": { "hgvs": "NP_001162.5:p.Ala1478=" }, "referenceSequence": "http://reg.genome.network/refseq/RS713353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000205557.12:c.4434A=" }, "RefSeq": { "hgvs": "NM_001171.6:c.4434A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000205557.7:p.Ala1478=" }, "RefSeq": { "hgvs": "NP_001162.5:p.Ala1478=" } } } } ], "type": "nucleotide" }