Canonical Allele Identifier: CA2844595647
Gene: MT-CO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9541dup , J01415.2:m.9541dup GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000362079.2:c.335dup ENSP00000354982.2:p.Leu112PhefsTer?