Canonical Allele Identifier: CA120629
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 9700
ClinVar RCV Id: RCV000010340 RCV000010341 RCV000010342
dbSNP Id: rs267606895
MyVariant Identifiers: chrMT:g.13045A>C (hg38)
PubMed: PMID:12509858
ERepo: CA120629/MONDO:0044970/014
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13045A>C , J01415.2:m.13045A>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.709A>C ENSP00000354813.2:p.Ile237Leu
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