Canonical Allele Identifier: CA414784115
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692650
ClinVar RCV Id: RCV000853972
dbSNP Id: rs1603220483
MyVariant Identifiers: chrMT:g.6456G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6456G>A , J01415.2:m.6456G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.553G>A ENSP00000354499.2:p.Val185Ile
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