Canonical Allele Identifier: CA10581395
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 235671
dbSNP Id: rs878853091
MyVariant Identifiers: chrMT:g.8519G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8519G>A , J01415.2:m.8519G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.154G>A ENSP00000355265.1:p.Glu52Lys