Canonical Allele Identifier: CA414797665
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2505068
ClinVar RCV Id: RCV003233248
MyVariant Identifiers: chrMT:g.8723G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8723G>T , J01415.2:m.8723G>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.197G>T ENSP00000354632.2:p.Arg66Leu
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