Allele Registry

Canonical Allele Identifier: CA254853

Gene: MT-ND6 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

COSMIC:

COSM1155561

COSM1155562

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.14453G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010331

RCV000855109

RCV002260589

ClinVar Variation:

9692

dbSNP:

199476107

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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