Canonical Allele Identifier: CA414781374
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692610
ClinVar RCV Id: RCV000853929
dbSNP Id: rs1603220242
MyVariant Identifiers: chrMT:g.6048G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6048G>A , J01415.2:m.6048G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.145G>A ENSP00000354499.2:p.Gly49Ser
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