Canonical Allele Identifier: CA414796643
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692897
ClinVar RCV Id: RCV000854231
dbSNP Id: rs1556423486
MyVariant Identifiers: chrMT:g.8551T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8551T>C , J01415.2:m.8551T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.186T>C (MT-ATP8) ENSP00000355265.1:p.His62=
ENST00000361899.2:c.25T>C (MT-ATP6) ENSP00000354632.2:p.Phe9Leu
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