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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA120637
Gene: MT-ND3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9712
ClinVar RCV Id:
RCV000010358
RCV000144010
dbSNP Id:
rs267606890
MyVariant Identifiers:
chrMT:g.10191T>C (hg38)
PubMed:
PMID:11456298
PMID:14684687
PMID:14705112
PMID:14764913
PMID:15576045
PMID:20301352
ERepo:
CA120637/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.10191T>C , J01415.2:m.10191T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361227.2:c.133T>C
ENSP00000355206.2:p.Ser45Pro
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