Canonical Allele Identifier: CA337097950
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692936
ClinVar RCV Id: RCV000854272
dbSNP Id: rs200047468
MyVariant Identifiers: chrMT:g.8639T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8639T>C , J01415.2:m.8639T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.113T>C ENSP00000354632.2:p.Ile38Thr
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