Canonical Allele Identifier: CA340936
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 9697
ClinVar RCV Id: RCV000010337
dbSNP Id: rs387906425
MyVariant Identifiers: chrMT:g.13730G>A (hg38)
PubMed: PMID:8213825 PMID:20301353
ERepo: CA340936/MONDO:0044970/014
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13730G>A , J01415.2:m.13730G>A GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361567.2:c.1394G>A ENSP00000354813.2:p.Gly465Glu
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