Canonical Allele Identifier: CA913181177
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693090
ClinVar RCV Id: RCV000854437
dbSNP Id: rs1603222065

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9099C>A , J01415.2:m.9099C>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.573C>A ENSP00000354632.2:p.Ile191=