Canonical Allele Identifier: CA337097351
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692631
ClinVar RCV Id: RCV000853951
dbSNP Id: rs200165736
MyVariant Identifiers: chrMT:g.6253T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6253T>C , J01415.2:m.6253T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.350T>C ENSP00000354499.2:p.Ile117Thr