Canonical Allele Identifier: CA2573104816
Gene: MT-CO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6424dup , J01415.2:m.6424dup GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.521dup ENSP00000354499.2:p.Ala175CysfsTer?