Canonical Allele Identifier: CA259737
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 29999
ClinVar RCV Id: RCV000022893 RCV000854787
dbSNP Id: rs201863060
MyVariant Identifiers: chrMT:g.12338T>C (hg38)
PubMed: PMID:21131053
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12338T>C , J01415.2:m.12338T>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361567.2:c.2T>C ENSP00000354813.2:p.Ile1Thr
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