Canonical Allele Identifier: CA340933
Gene: MT-ND6 HGNC NCBI

Linked Data

ClinVar Variation Id: 9691
ClinVar RCV Id: RCV000010330 RCV002260588
dbSNP Id: rs199476106
MyVariant Identifiers: chrMT:g.14495A>G (hg38)
PubMed: PMID:11133798 PMID:20301353
ERepo: CA340933/MONDO:0044970/014
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14495A>G , J01415.2:m.14495A>G GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361681.2:c.179T>C ENSP00000354665.2:p.Leu60Ser
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