Canonical Allele Identifier: CA120593
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 9639
ClinVar RCV Id: RCV000010271
dbSNP Id: rs267606881
MyVariant Identifiers: chrMT:g.8529G>A (hg38)
PubMed: PMID:21686774
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8529G>A , J01415.2:m.8529G>A GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361851.1:c.164G>A (MT-ATP8) ENSP00000355265.1:p.Ter55=
ENST00000361899.2:c.3G>A (MT-ATP6) ENSP00000354632.2:p.Met1Ile
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