Canonical Allele Identifier: CA414797300
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 618717
ClinVar RCV Id: RCV000757475
dbSNP Id: rs1569484228
MyVariant Identifiers: chrMT:g.8669G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8669G>C , J01415.2:m.8669G>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.143G>C ENSP00000354632.2:p.Ter48Ser
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