ClinGen Allele Registry
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Canonical Allele Identifier:
CA414783949
Gene: MT-CO1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.6433C>T (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.6433C>T , J01415.2:m.6433C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361624.2:c.530C>T
ENSP00000354499.2:p.Thr177Ile
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