Canonical Allele Identifier: CA10581297
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 235388
ClinVar RCV Id: RCV000224197
dbSNP Id: rs878853027
MyVariant Identifiers: chrMT:g.12903T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12903T>C , J01415.2:m.12903T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.567T>C ENSP00000354813.2:p.Phe189=
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