Canonical Allele Identifier: CA414801795
Gene: MT-ATP6 HGNC NCBI

Linked Data

dbSNP Id: rs1603221961
COSMIC: COSM1138410 COSM1138411
MyVariant Identifiers: chrMT:g.8995G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8995G>C , J01415.2:m.8995G>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.469G>C ENSP00000354632.2:p.Ala157Pro
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