Canonical Allele Identifier: CA414818362
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693567
ClinVar RCV Id: RCV000854942
dbSNP Id: rs1603224217
MyVariant Identifiers: chrMT:g.13522A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13522A>C , J01415.2:m.13522A>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361567.2:c.1186A>C ENSP00000354813.2:p.Ile396Leu
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