Canonical Allele Identifier: CA414796064
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692854
ClinVar RCV Id: RCV000854184
dbSNP Id: rs1603221477
MyVariant Identifiers: chrMT:g.8429C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8429C>T , J01415.2:m.8429C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.64C>T ENSP00000355265.1:p.Leu22Phe
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