ClinGen Allele Registry
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Canonical Allele Identifier:
CA356575
Gene: MT-ND6
HGNC
NCBI
Linked Data
dbSNP Id:
rs869025187
MyVariant Identifiers:
chrMT:g.14279G>A (hg38)
PubMed:
PMID:20301353
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14279G>A , J01415.2:m.14279G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361681.2:c.395C>T
ENSP00000354665.2:p.Ser132Leu
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