Canonical Allele Identifier: CA414820683
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693656
ClinVar RCV Id: RCV000855036
dbSNP Id: rs879112261
MyVariant Identifiers: chrMT:g.14050T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14050T>C , J01415.2:m.14050T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1714T>C ENSP00000354813.2:p.Ser572Pro
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