ClinGen 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
RCV001542636
RCV002291212
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
Search 100 bp 5'
Search 100 bp 3'