Canonical Allele Identifier: CA250381
Gene: MT-ND6 HGNC NCBI

Linked Data

ClinVar Variation Id: 209173
ClinVar RCV Id: RCV000191107 RCV000855132 RCV002247618
dbSNP Id: rs797045055
MyVariant Identifiers: chrMT:g.14597A>G (hg38)
ERepo: CA250381/MONDO:0044970/014
PubMed: PMID:24088041 PMID:26633545
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14597A>G , J01415.2:m.14597A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361681.2:c.77T>C ENSP00000354665.2:p.Ile26Thr
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