Canonical Allele Identifier: CA337097972
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692942
ClinVar RCV Id: RCV000854279
dbSNP Id: rs200811540
MyVariant Identifiers: chrMT:g.8654T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8654T>C , J01415.2:m.8654T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.128T>C ENSP00000354632.2:p.Ile43Thr