Canonical Allele Identifier: CA254853
Gene: MT-ND6 HGNC NCBI

Linked Data

ClinVar Variation Id: 9692
ClinVar RCV Id: RCV000010331 RCV000855109 RCV002260589
dbSNP Id: rs199476107
COSMIC: COSM1155561 COSM1155562
MyVariant Identifiers: chrMT:g.14453G>A (hg38)
ERepo: CA254853/MONDO:0044970/014
PubMed: PMID:11781695
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14453G>A , J01415.2:m.14453G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361681.2:c.221C>T ENSP00000354665.2:p.Ala74Val
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