Canonical Allele Identifier: CA120625

Gene: MT-ND6

Linked Data

• ClinVar Variation Id: 9689
• ClinVar RCV Id: RCV000010327 ; RCV000010326 ; RCV000010328 ; RCV000144019 ; RCV001796715
• dbSNP Id: rs199476105
• MyVariant Identifiers: chrMT:g.14459G>A (hg38)
• ERepo: CA120625/MONDO:0044970/014
• PubMed: PMID:7654063 ; PMID:8016139 ; PMID:10894222 ; PMID:14735585 ; PMID:16380132 ; PMID:20301352 ; PMID:20301353

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.14459G>A , J01415.2:m.14459G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361681.2:c.215C>T	ENSP00000354665.2:p.Ala72Val