Canonical Allele Identifier: CA414804098
Gene: MT-CO3 HGNC NCBI

Linked Data

ClinVar Variation Id: 693252
dbSNP Id: rs1556423753
MyVariant Identifiers: chrMT:g.9957T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9957T>C , J01415.2:m.9957T>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000362079.2:c.751T>C ENSP00000354982.2:p.Phe251Leu