Canonical Allele Identifier: CA913179183
Gene: MT-ATP8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8416C>T , J01415.2:m.8416C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.51C>T ENSP00000355265.1:p.Leu17=