Canonical Allele Identifier: CA414792505
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692734
ClinVar RCV Id: RCV000854059
dbSNP Id: rs1603220894
MyVariant Identifiers: chrMT:g.7347G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.7347G>A , J01415.2:m.7347G>A GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361624.2:c.1444G>A ENSP00000354499.2:p.Val482Ile
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