Canonical Allele Identifier: CA414781344
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692609
ClinVar RCV Id: RCV000853928
dbSNP Id: rs1556423072
MyVariant Identifiers: chrMT:g.6040A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6040A>G , J01415.2:m.6040A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.137A>G ENSP00000354499.2:p.Asn46Ser