Canonical Allele Identifier: CA414802272
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693104
ClinVar RCV Id: RCV000854452
dbSNP Id: rs1603222118
COSMIC: COSM1138418 COSM1138419
MyVariant Identifiers: chrMT:g.9133G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9133G>A , J01415.2:m.9133G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.607G>A ENSP00000354632.2:p.Glu203Lys
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Search 100 bp 3'