Canonical Allele Identifier: CA337098062
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693000
ClinVar RCV Id: RCV000854340
dbSNP Id: rs386829053
COSMIC: COSM488776 COSM1138409
MyVariant Identifiers: chrMT:g.8843T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8843T>C , J01415.2:m.8843T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.317T>C ENSP00000354632.2:p.Ile106Thr
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