Canonical Allele Identifier: CA414802523
Gene: MT-CO3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1708973
ClinVar RCV Id: RCV002288257
MyVariant Identifiers: chrMT:g.9247G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9247G>C , J01415.2:m.9247G>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000362079.2:c.41G>C ENSP00000354982.2:p.Ser14Thr