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

Linked Data

ClinVar Variation Id: 9689
ClinVar RCV Id: RCV000010327 RCV000010326 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
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'