Canonical Allele Identifier: CA2573105002
Gene: MT-ATP8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8473dup , J01415.2:m.8473dup GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.108dup ENSP00000355265.1:p.Pro37SerfsTer12