ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA120547
Gene: MT-CO1
HGNC
NCBI
Linked Data - Expert Curation
ClinGen Evidence Repository:
Classification
Pathogenic
Condition
mitochondrial disease
VCEP
Mitochondrial Diseases VCEP
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.7445A>G
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010176
RCV000010177
RCV000850885
RCV003162228
ClinVar Variation:
9563
dbSNP:
199474818
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.7445A>G , J01415.2:m.7445A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.1542A>G
ENSP00000354499.2:p.Arg514=
Search 100 bp 5'
Search 100 bp 3'