ClinGen Allele Registry
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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)
ERepo:
CA340933/MONDO:0044970/014
PubMed:
PMID:11133798
PMID:20301353
JSON-LD
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
Search 100 bp 5'
Search 100 bp 3'