Allele Registry

Canonical Allele Identifier: CA254851

Gene: MT-CO1 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Benign

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.7444G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010299

RCV000010300

RCV000010301

RCV000854073

RCV001268422

RCV003319164

ClinVar Variation:

9663

dbSNP:

199474822

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.7444G>A , J01415.2:m.7444G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361624.2:c.1541G>A	ENSP00000354499.2:p.Arg514Lys

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