Canonical Allele Identifier: CA337098448
Gene: MT-CO3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3027421
ClinVar RCV Id: RCV003887814
dbSNP Id: rs2248727
MyVariant Identifiers: chrMT:g.9540T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9540T>C , J01415.2:m.9540T>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000362079.2:c.334T>C ENSP00000354982.2:p.Leu112=