Canonical Allele Identifier: CA414797654
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692962
ClinVar RCV Id: RCV000854301
dbSNP Id: rs1603221728
MyVariant Identifiers: chrMT:g.8720G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8720G>C , J01415.2:m.8720G>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.194G>C ENSP00000354632.2:p.Gly65Ala