Canonical Allele Identifier: CA414820972
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693667
ClinVar RCV Id: RCV000855047
dbSNP Id: rs1603224530
MyVariant Identifiers: chrMT:g.14112C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14112C>A , J01415.2:m.14112C>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1776C>A ENSP00000354813.2:p.Phe592Leu
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