Canonical Allele Identifier: CA414798227
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692990
ClinVar RCV Id: RCV000854330
dbSNP Id: rs1556423543
MyVariant Identifiers: chrMT:g.8812A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8812A>G , J01415.2:m.8812A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.286A>G ENSP00000354632.2:p.Thr96Ala