ClinGen Allele Registry
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Canonical Allele Identifier:
CA270779
Gene: MT-ND3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
156375
ClinVar RCV Id:
RCV000144458
RCV003985280
dbSNP Id:
rs587780529
MyVariant Identifiers:
chrMT:g.10134C>A (hg38)
ERepo:
CA270779/MONDO:0044970/014
PubMed:
PMID:25118196
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.10134C>A , J01415.2:m.10134C>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361227.2:c.76C>A
ENSP00000355206.2:p.Gln26Lys
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