Canonical Allele Identifier: CA414781442
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692612
ClinVar RCV Id: RCV000853931
dbSNP Id: rs1603220250
MyVariant Identifiers: chrMT:g.6060A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6060A>C , J01415.2:m.6060A>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.157A>C ENSP00000354499.2:p.Ile53Leu
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