Canonical Allele Identifier: CA414797926
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692977
ClinVar RCV Id: RCV000854316
dbSNP Id: rs1603221778
MyVariant Identifiers: chrMT:g.8762T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8762T>C , J01415.2:m.8762T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.236T>C ENSP00000354632.2:p.Ile79Thr