Canonical Allele Identifier: CA340928
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 9647
dbSNP Id: rs199476138
MyVariant Identifiers: chrMT:g.9185T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9185T>C , J01415.2:m.9185T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.659T>C ENSP00000354632.2:p.Leu220Pro