Canonical Allele Identifier: CA414797179

Gene: MT-ATP6

Linked Data

• ClinVar Variation Id: 441129
• ClinVar RCV Id: RCV000509112 ; RCV000854277
• dbSNP Id: rs1556423512
• MyVariant Identifiers: chrMT:g.8651T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8651T>C , J01415.2:m.8651T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.125T>C	ENSP00000354632.2:p.Leu42Pro