{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8242485", "communityStandardTitle": [ "NM_013275.6(ANKRD11):c.2890G>A (p.Gly964Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1202095[alleleid]", "alleleId": 1202095, "preferredName": "NM_013275.6(ANKRD11):c.2890G>A (p.Gly964Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1212100", "RCV": [ "RCV001589338" ], "variationId": 1212100 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-89350060-C-T", "id": "16-89350060-C-T", "variant": "16:89350060 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89350060C>T?assembly=hg19", "id": "chr16:g.89350060C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89283652C>T?assembly=hg38", "id": "chr16:g.89283652C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/375695945", "rs": 375695945 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89350060-C-T?dataset=gnomad_r2_1", "id": "16-89350060-C-T", "variant": "16:89350060 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89283652-C-T?dataset=gnomad_r3", "id": "16-89283652-C-T", "variant": "16:89283652 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89283652-C-T?dataset=gnomad_r4", "id": "16-89283652-C-T", "variant": "16:89283652 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 89283652, "referenceAllele": "C", "start": 89283651 } ], "hgvs": [ "NC_000016.10:g.89283652C>T", "CM000678.2:g.89283652C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 89350060, "referenceAllele": "C", "start": 89350059 } ], "hgvs": [ "NC_000016.9:g.89350060C>T", "CM000678.1:g.89350060C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 87877561, "referenceAllele": "C", "start": 87877560 } ], "hgvs": [ "NC_000016.8:g.87877561C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 211910, "referenceAllele": "G", "start": 211909 } ], "hgvs": [ "NG_032003.1:g.211910G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005088" }, { "coordinates": [ { "allele": "A", "end": 211910, "referenceAllele": "G", "start": 211909 } ], "hgvs": [ "NG_032003.2:g.211910G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673857" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3351, "referenceAllele": "G", "start": 3350 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.10:c.2890G>A" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Gly964Ser", "hgvsWellDefined": "ENSP00000301030.4:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS744803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.2890G>A" }, "RefSeq": { "hgvs": "NM_013275.6:c.2890G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Gly964Ser" }, "RefSeq": { "hgvs": "NP_037407.4:p.Gly964Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 3203, "referenceAllele": "G", "start": 3202 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.10:c.*2693G>A" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*2693G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS747095" }, { "coordinates": [ { "allele": "A", "end": 3181, "referenceAllele": "G", "start": 3180 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.7:c.2890G>A" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Gly964Ser", "hgvsWellDefined": "ENSP00000367581.2:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS752067" }, { "coordinates": [ { "allele": "A", "end": 2596, "referenceAllele": "G", "start": 2595 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000642443.1:c.2515G>A" ], "proteinEffect": { "hgvs": "ENSP00000493644.1:p.Gly839Ser", "hgvsWellDefined": "ENSP00000493644.1:p.Gly839Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS766748" }, { "coordinates": [ { "allele": "A", "end": 3266, "referenceAllele": "G", "start": 3265 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000642600.1:c.2890G>A" ], "proteinEffect": { "hgvs": "ENSP00000495226.1:p.Gly964Ser", "hgvsWellDefined": "ENSP00000495226.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS766832" }, { "coordinates": [ { "allele": "A", "end": 744, "endIntronDirection": "+", "endIntronOffset": 4876, "referenceAllele": "G", "start": 744, "startIntronDirection": "+", "startIntronOffset": 4875 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000644285.1:c.744+4876G>A" ], "proteinEffect": { "hgvs": "ENSP00000496476.1:n.744+4876G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767741" }, { "coordinates": [ { "allele": "A", "end": 3351, "referenceAllele": "G", "start": 3350 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.8:c.2890G>A" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Gly964Ser", "hgvsWellDefined": "ENSP00000301030.4:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS254944" }, { "coordinates": [ { "allele": "A", "end": 3110, "referenceAllele": "G", "start": 3109 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.9:c.*2693G>A" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*2693G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS259288" }, { "coordinates": [ { "allele": "A", "end": 3179, "referenceAllele": "G", "start": 3178 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.6:c.2890G>A" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Gly964Ser", "hgvsWellDefined": "ENSP00000367581.2:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS271989" }, { "coordinates": [ { "allele": "A", "end": 151, "endIntronDirection": "+", "endIntronOffset": 4876, "referenceAllele": "G", "start": 151, "startIntronDirection": "+", "startIntronOffset": 4875 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000562194.1:c.151+4876G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS376627" }, { "@id": "http://reg.genome.network/allele/PA2826373465", "coordinates": [ { "allele": "A", "end": 3422, "referenceAllele": "G", "start": 3421 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.1:c.2890G>A" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Gly964Ser", "hgvsWellDefined": "NP_001243111.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS019125" }, { "@id": "http://reg.genome.network/allele/PA2826375309", "coordinates": [ { "allele": "A", "end": 3348, "referenceAllele": "G", "start": 3347 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.1:c.2890G>A" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Gly964Ser", "hgvsWellDefined": "NP_001243112.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS019126" }, { "@id": "http://reg.genome.network/allele/PA2499277126", "coordinates": [ { "allele": "A", "end": 3351, "referenceAllele": "G", "start": 3350 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.5:c.2890G>A" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Gly964Ser", "hgvsWellDefined": "NP_037407.4:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS032679" }, { "coordinates": [ { "allele": "A", "end": 3128, "referenceAllele": "G", "start": 3127 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721181.1:c.2788G>A" ], "proteinEffect": { "hgvs": "XP_006721244.1:p.Gly930Ser", "hgvsWellDefined": "XP_006721244.1:p.Gly930Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS073977" }, { "coordinates": [ { "allele": "A", "end": 3166, "referenceAllele": "G", "start": 3165 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721184.2:c.2593G>A" ], "proteinEffect": { "hgvs": "XP_006721247.1:p.Gly865Ser", "hgvsWellDefined": "XP_006721247.1:p.Gly865Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS073978" }, { "coordinates": [ { "allele": "A", "end": 3408, "referenceAllele": "G", "start": 3407 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.1:c.2890G>A" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Gly964Ser", "hgvsWellDefined": "XP_011521353.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS090191" }, { "coordinates": [ { "allele": "A", "end": 3113, "referenceAllele": "G", "start": 3112 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523052.1:c.2890G>A" ], "proteinEffect": { "hgvs": "XP_011521354.1:p.Gly964Ser", "hgvsWellDefined": "XP_011521354.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS090192" }, { "coordinates": [ { "allele": "A", "end": 3546, "referenceAllele": "G", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.1:c.2890G>A" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Gly964Ser", "hgvsWellDefined": "XP_011521355.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS090193" }, { "coordinates": [ { "allele": "A", "end": 3461, "referenceAllele": "G", "start": 3460 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.1:c.2788G>A" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Gly930Ser", "hgvsWellDefined": "XP_011521356.1:p.Gly930Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS090194" }, { "coordinates": [ { "allele": "A", "end": 3734, "referenceAllele": "G", "start": 3733 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.1:c.2788G>A" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Gly930Ser", "hgvsWellDefined": "XP_011521357.1:p.Gly930Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS090195" }, { "coordinates": [ { "allele": "A", "end": 3483, "referenceAllele": "G", "start": 3482 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.1:c.2761G>A" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Gly921Ser", "hgvsWellDefined": "XP_011521358.1:p.Gly921Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS090196" }, { "coordinates": [ { "allele": "A", "end": 3363, "referenceAllele": "G", "start": 3362 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.1:c.2890G>A" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Gly964Ser", "hgvsWellDefined": "XP_011521359.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS090197" }, { "coordinates": [ { "allele": "A", "end": 3412, "referenceAllele": "G", "start": 3411 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.3:c.2890G>A" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Gly964Ser", "hgvsWellDefined": "XP_011521353.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS546876" }, { "coordinates": [ { "allele": "A", "end": 3517, "referenceAllele": "G", "start": 3516 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.2:c.2890G>A" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Gly964Ser", "hgvsWellDefined": "XP_011521355.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS546877" }, { "coordinates": [ { "allele": "A", "end": 3431, "referenceAllele": "G", "start": 3430 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.2:c.2788G>A" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Gly930Ser", "hgvsWellDefined": "XP_011521356.1:p.Gly930Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS546878" }, { "coordinates": [ { "allele": "A", "end": 3716, "referenceAllele": "G", "start": 3715 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.2:c.2788G>A" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Gly930Ser", "hgvsWellDefined": "XP_011521357.1:p.Gly930Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS546879" }, { "coordinates": [ { "allele": "A", "end": 3453, "referenceAllele": "G", "start": 3452 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.2:c.2761G>A" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Gly921Ser", "hgvsWellDefined": "XP_011521358.1:p.Gly921Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS546880" }, { "coordinates": [ { "allele": "A", "end": 3334, "referenceAllele": "G", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.2:c.2890G>A" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Gly964Ser", "hgvsWellDefined": "XP_011521359.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS546881" }, { "coordinates": [ { "allele": "A", "end": 3898, "referenceAllele": "G", "start": 3897 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023182.2:c.2890G>A" ], "proteinEffect": { "hgvs": "XP_016878671.1:p.Gly964Ser", "hgvsWellDefined": "XP_016878671.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS573985" }, { "coordinates": [ { "allele": "A", "end": 3520, "referenceAllele": "G", "start": 3519 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023183.1:c.2890G>A" ], "proteinEffect": { "hgvs": "XP_016878672.1:p.Gly964Ser", "hgvsWellDefined": "XP_016878672.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS573986" }, { "coordinates": [ { "allele": "A", "end": 3517, "referenceAllele": "G", "start": 3516 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023184.1:c.2890G>A" ], "proteinEffect": { "hgvs": "XP_016878673.1:p.Gly964Ser", "hgvsWellDefined": "XP_016878673.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS573987" }, { "coordinates": [ { "allele": "A", "end": 3158, "referenceAllele": "G", "start": 3157 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023185.1:c.2890G>A" ], "proteinEffect": { "hgvs": "XP_016878674.1:p.Gly964Ser", "hgvsWellDefined": "XP_016878674.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS573988" }, { "coordinates": [ { "allele": "A", "end": 3894, "referenceAllele": "G", "start": 3893 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023186.1:c.2890G>A" ], "proteinEffect": { "hgvs": "XP_016878675.1:p.Gly964Ser", "hgvsWellDefined": "XP_016878675.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS573989" }, { "coordinates": [ { "allele": "A", "end": 3246, "referenceAllele": "G", "start": 3245 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023187.1:c.2890G>A" ], "proteinEffect": { "hgvs": "XP_016878676.1:p.Gly964Ser", "hgvsWellDefined": "XP_016878676.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS573990" }, { "coordinates": [ { "allele": "A", "end": 3428, "referenceAllele": "G", "start": 3427 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_024450244.1:c.2788G>A" ], "proteinEffect": { "hgvs": "XP_024306012.1:p.Gly930Ser", "hgvsWellDefined": "XP_024306012.1:p.Gly930Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS583785" }, { "@id": "http://reg.genome.network/allele/PA2499277126", "coordinates": [ { "allele": "A", "end": 3351, "referenceAllele": "G", "start": 3350 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.6:c.2890G>A" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Gly964Ser", "hgvsWellDefined": "NP_037407.4:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS668098", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.2890G>A" }, "RefSeq": { "hgvs": "NM_013275.6:c.2890G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Gly964Ser" }, "RefSeq": { "hgvs": "NP_037407.4:p.Gly964Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2826373465", "coordinates": [ { "allele": "A", "end": 3422, "referenceAllele": "G", "start": 3421 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.2:c.2890G>A" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Gly964Ser", "hgvsWellDefined": "NP_001243111.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS680509" }, { "@id": "http://reg.genome.network/allele/PA2826375309", "coordinates": [ { "allele": "A", "end": 3348, "referenceAllele": "G", "start": 3347 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.2:c.2890G>A" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Gly964Ser", "hgvsWellDefined": "NP_001243112.1:p.Gly964Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS680510" } ], "type": "nucleotide" }