Canonical Allele Identifier: CA254853

Gene: MT-ND6

Linked Data

• ClinVar Variation Id: 9692
• ClinVar RCV Id: RCV000010331 ; RCV000855109 ; RCV002260589
• dbSNP Id: rs199476107
• COSMIC: COSM1155561 ; COSM1155562
• MyVariant Identifiers: chrMT:g.14453G>A (hg38)
• ERepo: CA254853/MONDO:0044970/014
• PubMed: PMID:11781695

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.14453G>A , J01415.2:m.14453G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361681.2:c.221C>T	ENSP00000354665.2:p.Ala74Val