Canonical Allele Identifier: CA10581280

Gene: MT-ATP6

Linked Data

• ClinVar Variation Id: 235343
• ClinVar RCV Id: RCV000224223 ; RCV000854366 ; RCV001526415
• dbSNP Id: rs878853013
• MyVariant Identifiers: chrMT:g.8932C>T (hg38)
• ERepo: CA10581280/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8932C>T , J01415.2:m.8932C>T	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.406C>T	ENSP00000354632.2:p.Pro136Ser