Canonical Allele Identifier: CA340934

Gene: MT-ND6

Linked Data

• ClinVar Variation Id: 9693
• ClinVar RCV Id: RCV000010332 ; RCV002260590
• dbSNP Id: rs199476108
• MyVariant Identifiers: chrMT:g.14482C>A (hg38)
• PubMed: PMID:12112086 ; PMID:20301353
• ERepo: CA340934/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.14482C>A , J01415.2:m.14482C>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361681.2:c.192G>T	ENSP00000354665.2:p.Met64Ile