Canonical Allele Identifier: CA414802164
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693082
ClinVar RCV Id: RCV000854428
dbSNP Id: rs1603222048
MyVariant Identifiers: chrMT:g.9085C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9085C>A , J01415.2:m.9085C>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.559C>A ENSP00000354632.2:p.Pro187Thr
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