Canonical Allele Identifier: CA414798422
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692998
ClinVar RCV Id: RCV000854338
dbSNP Id: rs386829052
MyVariant Identifiers: chrMT:g.8842A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8842A>C , J01415.2:m.8842A>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361899.2:c.316A>C ENSP00000354632.2:p.Ile106Leu
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