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)
ERepo: CA120637/MONDO:0044970/014
PubMed: PMID:11456298 PMID:14684687 PMID:14705112 PMID:14764913 PMID:15576045 PMID:20301352
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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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