Canonical Allele Identifier: CA414784417
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692653
ClinVar RCV Id: RCV000853977
dbSNP Id: rs1603220512
MyVariant Identifiers: chrMT:g.6504G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6504G>A , J01415.2:m.6504G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.601G>A ENSP00000354499.2:p.Val201Ile