Canonical Allele Identifier: CA414792075
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692720
ClinVar RCV Id: RCV000854045
dbSNP Id: rs1603220851
MyVariant Identifiers: chrMT:g.7249C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.7249C>T , J01415.2:m.7249C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.1346C>T ENSP00000354499.2:p.Thr449Ile