Canonical Allele Identifier: CA414802243
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693097
ClinVar RCV Id: RCV000854445
dbSNP Id: rs1603222091
MyVariant Identifiers: chrMT:g.9115A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9115A>G , J01415.2:m.9115A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.589A>G ENSP00000354632.2:p.Ile197Val
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