Canonical Allele Identifier: CA414797832
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692973
ClinVar RCV Id: RCV000854312
dbSNP Id: rs1603221765
MyVariant Identifiers: chrMT:g.8750T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8750T>C , J01415.2:m.8750T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.224T>C ENSP00000354632.2:p.Leu75Ser