Canonical Allele Identifier: CA414802220

Gene: MT-ATP6

Linked Data

• ClinVar Variation Id: 693094
• ClinVar RCV Id: RCV000854442
• dbSNP Id: rs1603222079
• MyVariant Identifiers: chrMT:g.9104T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.9104T>C , J01415.2:m.9104T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.578T>C	ENSP00000354632.2:p.Phe193Ser