Canonical Allele Identifier: CA414783362
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692642
ClinVar RCV Id: RCV000853964
dbSNP Id: rs1556423121
MyVariant Identifiers: chrMT:g.6345T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6345T>C , J01415.2:m.6345T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.442T>C ENSP00000354499.2:p.Phe148Leu
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