Canonical Allele Identifier: CA120608
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9664
ClinVar RCV Id: RCV000010302 RCV002247303 RCV003985256
dbSNP Id: rs199476126
MyVariant Identifiers: chrMT:g.6742T>C (hg38)
ERepo: CA120608/MONDO:0044970/014
PubMed: PMID:9389715
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6742T>C , J01415.2:m.6742T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.839T>C ENSP00000354499.2:p.Ile280Thr
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