Canonical Allele Identifier: CA16603213
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 376933
ClinVar RCV Id: RCV000436087
dbSNP Id: rs386829057
MyVariant Identifiers: chrMT:g.8886G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8886G>A , J01415.2:m.8886G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.360G>A ENSP00000354632.2:p.Lys120=