Canonical Allele Identifier: CA337097920
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692901
ClinVar RCV Id: RCV000854236
dbSNP Id: rs386829040
MyVariant Identifiers: chrMT:g.8557G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8557G>C , J01415.2:m.8557G>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.192G>C (MT-ATP8) ENSP00000355265.1:p.Leu64Phe
ENST00000361899.2:c.31G>C (MT-ATP6) ENSP00000354632.2:p.Ala11Pro
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