Canonical Allele Identifier: CA344824
Gene: MT-ND6 HGNC NCBI

Linked Data

ClinVar Variation Id: 65513
ClinVar RCV Id: RCV000055701 RCV003162433
dbSNP Id: rs199476108
MyVariant Identifiers: chrMT:g.14482C>G (hg38)
PubMed: PMID:20301353
ERepo: CA344824/MONDO:0044970/014
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14482C>G , J01415.2:m.14482C>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361681.2:c.192G>C ENSP00000354665.2:p.Met64Ile
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