Allele Registry

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Canonical Allele Identifier: CA254853

Gene: MT-ND6 HGNC NCBI

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

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