Canonical Allele Identifier: CA2573104996
Gene: MT-ATP8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8410dup , J01415.2:m.8410dup GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.45dup ENSP00000355265.1:p.Ile16HisfsTer?