Canonical Allele Identifier: CA414797849
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692974
ClinVar RCV Id: RCV000854313
dbSNP Id: rs1603221770
MyVariant Identifiers: chrMT:g.8752A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8752A>G , J01415.2:m.8752A>G GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361899.2:c.226A>G ENSP00000354632.2:p.Ile76Val