Canonical Allele Identifier: CA414798230
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692991
ClinVar RCV Id: RCV000854331
dbSNP Id: rs1556423543
MyVariant Identifiers: chrMT:g.8812A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.286A>T ENSP00000354632.2:p.Thr96Ser