Canonical Allele Identifier: CA414796637
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692896
ClinVar RCV Id: RCV000854230
dbSNP Id: rs1603221581
MyVariant Identifiers: chrMT:g.8550A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8550A>G , J01415.2:m.8550A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.185A>G (MT-ATP8) ENSP00000355265.1:p.His62Arg
ENST00000361899.2:c.24A>G (MT-ATP6) ENSP00000354632.2:p.Ser8=
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