Canonical Allele Identifier: CA120615
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9671
ClinVar RCV Id: RCV000010309
dbSNP Id: rs267606883
MyVariant Identifiers: chrMT:g.6328C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6328C>T , J01415.2:m.6328C>T GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361624.2:c.425C>T ENSP00000354499.2:p.Ser142Phe