Canonical Allele Identifier: CA414797832

Gene: MT-ATP6

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