Canonical Allele Identifier: CA414802389
Gene: MT-ATP6 HGNC NCBI

Linked Data

dbSNP Id: rs386829069
COSMIC: COSM1331619 COSM1331620
MyVariant Identifiers: chrMT:g.9190C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9190C>T , J01415.2:m.9190C>T GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361899.2:c.664C>T ENSP00000354632.2:p.Leu222=
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