Canonical Allele Identifier: CA2740098147
Gene: MT-ATP6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8622dup , J01415.2:m.8622dup GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.96dup ENSP00000354632.2:p.Thr33HisfsTer?