ClinGen Allele Registry
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Canonical Allele Identifier:
CA414792075
Gene: MT-CO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692720
ClinVar RCV Id:
RCV000854045
dbSNP Id:
rs1603220851
MyVariant Identifiers:
chrMT:g.7249C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.7249C>T , J01415.2:m.7249C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.1346C>T
ENSP00000354499.2:p.Thr449Ile
Search 100 bp 5'
Search 100 bp 3'