Canonical Allele Identifier: CA16040651
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 370051
ClinVar RCV Id: RCV000408929 RCV000854464 RCV001090137
dbSNP Id: rs1057516063
MyVariant Identifiers: chrMT:g.9166T>C (hg38)
PubMed: PMID:28027978
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9166T>C , J01415.2:m.9166T>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361899.2:c.640T>C ENSP00000354632.2:p.Phe214Leu
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