Canonical Allele Identifier: CA414796857
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692918
ClinVar RCV Id: RCV000854253
dbSNP Id: rs1603221620
MyVariant Identifiers: chrMT:g.8597T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8597T>C , J01415.2:m.8597T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.71T>C ENSP00000354632.2:p.Ile24Thr