Canonical Allele Identifier: CA414797312
Gene: MT-ATP6 HGNC NCBI

Linked Data

dbSNP Id: rs1603221690
COSMIC: COSM1155684 COSM1155685
MyVariant Identifiers: chrMT:g.8670A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8670A>G , J01415.2:m.8670A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.144A>G ENSP00000354632.2:p.Ter48Trp
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