Canonical Allele Identifier: CA120611

Gene: MT-CO1

Linked Data

• ClinVar Variation Id: 9666
• ClinVar RCV Id: RCV000010304 ; RCV000853974 ; RCV003985072
• dbSNP Id: rs199476128
• MyVariant Identifiers: chrMT:g.6480G>A (hg38)
• PubMed: PMID:9832034

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.6480G>A , J01415.2:m.6480G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361624.2:c.577G>A	ENSP00000354499.2:p.Val193Ile