Canonical Allele Identifier: CA414796708
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692902
ClinVar RCV Id: RCV000854237
dbSNP Id: rs1603221584
MyVariant Identifiers: chrMT:g.8562C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8562C>T , J01415.2:m.8562C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.197C>T (MT-ATP8) ENSP00000355265.1:p.Pro66Leu
ENST00000361899.2:c.36C>T (MT-ATP6) ENSP00000354632.2:p.Pro12=
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