Canonical Allele Identifier: CA254851
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9663
ClinVar RCV Id: RCV000010300 RCV000010299 RCV000010301 RCV000854073 RCV001268422 RCV003319164
dbSNP Id: rs199474822
MyVariant Identifiers: chrMT:g.7444G>A (hg38)
ERepo: CA254851/MONDO:0044970/014
PubMed: PMID:1634041 PMID:8077181 PMID:8240356 PMID:9742104 PMID:10577941 PMID:16152638 PMID:17659260 PMID:20301595
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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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