Canonical Allele Identifier: CA414798876
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693021
ClinVar RCV Id: RCV000854361
dbSNP Id: rs1603221899
MyVariant Identifiers: chrMT:g.8910C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8910C>A , J01415.2:m.8910C>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.384C>A ENSP00000354632.2:p.Phe128Leu
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