Canonical Allele Identifier: CA891863060

Gene: MT-CO1

Linked Data

• ClinVar Variation Id: 590893
• ClinVar RCV Id: RCV000722081
• dbSNP Id: rs1569484042
• MyVariant Identifiers: chrMT:g.5954del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.5954del , J01415.2:m.5954del	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361624.2:c.51del	ENSP00000354499.2:p.Leu18TyrfsTer12