Canonical Allele Identifier: CA414801774
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693046
ClinVar RCV Id: RCV000854389
dbSNP Id: rs587776444
MyVariant Identifiers: chrMT:g.8989G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8989G>A , J01415.2:m.8989G>A GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361899.2:c.463G>A ENSP00000354632.2:p.Ala155Thr