Canonical Allele Identifier: CA10581316
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 235457
ClinVar RCV Id: RCV000224066
dbSNP Id: rs386829056
MyVariant Identifiers: chrMT:g.8865G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8865G>A , J01415.2:m.8865G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.339G>A ENSP00000354632.2:p.Val113=