Canonical Allele Identifier: CA120625
Gene: MT-ND6 HGNC NCBI

Linked Data

ClinVar Variation Id: 9689
ClinVar RCV Id: RCV000010326 RCV000010327 RCV000010328 RCV000144019 RCV001796715
dbSNP Id: rs199476105
MyVariant Identifiers: chrMT:g.14459G>A (hg38)
ERepo: CA120625/MONDO:0044970/014
PubMed: PMID:7654063 PMID:8016139 PMID:10894222 PMID:14735585 PMID:16380132 PMID:20301352 PMID:20301353
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14459G>A , J01415.2:m.14459G>A GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361681.2:c.215C>T ENSP00000354665.2:p.Ala72Val
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