ClinGen Allele Registry
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Canonical Allele Identifier:
CA10581412
Gene: MT-CO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235718
ClinVar RCV Id:
RCV000224375
RCV000853953
dbSNP Id:
rs201262114
MyVariant Identifiers:
chrMT:g.6261G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.6261G>A , J01415.2:m.6261G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361624.2:c.358G>A
ENSP00000354499.2:p.Ala120Thr
Search 100 bp 5'
Search 100 bp 3'