Canonical Allele Identifier: CA414798844
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693019
ClinVar RCV Id: RCV000854359
dbSNP Id: rs1603221897
MyVariant Identifiers: chrMT:g.8906A>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8906A>C , J01415.2:m.8906A>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.380A>C ENSP00000354632.2:p.His127Pro