Canonical Allele Identifier: CA414820069
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1708995
ClinVar RCV Id: RCV002288279
dbSNP Id: rs2124597957
MyVariant Identifiers: chrMT:g.13912C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13912C>T , J01415.2:m.13912C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1576C>T ENSP00000354813.2:p.Leu526Phe
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