Canonical Allele Identifier: CA414802112
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693076
ClinVar RCV Id: RCV000854422
dbSNP Id: rs1556423603
MyVariant Identifiers: chrMT:g.9073A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9073A>C , J01415.2:m.9073A>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.547A>C ENSP00000354632.2:p.Thr183Pro
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