ClinGen Allele Registry
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Canonical Allele Identifier:
CA414803069
Gene: MT-CO3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693177
ClinVar RCV Id:
RCV000854530
dbSNP Id:
rs1556423681
MyVariant Identifiers:
chrMT:g.9495T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9495T>C , J01415.2:m.9495T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000362079.2:c.289T>C
ENSP00000354982.2:p.Phe97Leu
Search 100 bp 5'
Search 100 bp 3'