Canonical Allele Identifier: CA10581404

Gene: MT-ATP6

Linked Data

• ClinVar Variation Id: 235698
• ClinVar RCV Id: RCV000224169 ; RCV000709942 ; RCV000854460
• dbSNP Id: rs878853096
• MyVariant Identifiers: chrMT:g.9152T>C (hg38)
• ERepo: CA10581404/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.9152T>C , J01415.2:m.9152T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.626T>C	ENSP00000354632.2:p.Ile209Thr