Canonical Allele Identifier: CA199769
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 191364
dbSNP Id: rs794726857
MyVariant Identifiers: chrMT:g.8969G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8969G>A , J01415.2:m.8969G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.443G>A ENSP00000354632.2:p.Ser148Asn