Canonical Allele Identifier: CA345921
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 155892
dbSNP Id: rs1556423547
MyVariant Identifiers: chrMT:g.8839G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8839G>C , J01415.2:m.8839G>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.313G>C ENSP00000354632.2:p.Ala105Pro