ClinGen Allele Registry
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Canonical Allele Identifier:
CA414772609
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692343
ClinVar RCV Id:
RCV000853643
RCV001249404
RCV001796800
dbSNP Id:
rs1556422714
MyVariant Identifiers:
chrMT:g.3357G>C (hg38)
ERepo:
CA414772609/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3357G>C , J01415.2:m.3357G>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.51G>C
ENSP00000354687.2:p.Met17Ile
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