Canonical Allele Identifier: CA414792058
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692719
ClinVar RCV Id: RCV000854044
dbSNP Id: rs1556423253
MyVariant Identifiers: chrMT:g.7245A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.7245A>G , J01415.2:m.7245A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.1342A>G ENSP00000354499.2:p.Thr448Ala