ClinGen Allele Registry
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Canonical Allele Identifier:
CA337099527
Gene: MT-ND5
HGNC
NCBI
Linked Data
dbSNP Id:
rs193302956
COSMIC:
COSM1155526
MyVariant Identifiers:
chrMT:g.12705C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12705C>T , J01415.2:m.12705C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.369C>T
ENSP00000354813.2:p.Ile123=
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