Canonical Allele Identifier: CA414798091
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692986
ClinVar RCV Id: RCV000854325
dbSNP Id: rs1603221811
MyVariant Identifiers: chrMT:g.8789T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8789T>C , J01415.2:m.8789T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.263T>C ENSP00000354632.2:p.Leu88Pro