Canonical Allele Identifier: CA120640
Gene: MT-ND3 HGNC NCBI

Linked Data

ClinVar Variation Id: 9715
ClinVar RCV Id: RCV000010362 RCV000010363 RCV000144011 RCV000507278 RCV002247309 RCV002285008 RCV002291213
dbSNP Id: rs267606891
MyVariant Identifiers: chrMT:g.10197G>A (hg38)
ERepo: CA120640/MONDO:0044970/014
PubMed: PMID:17152068 PMID:17413873 PMID:19458970 PMID:20301352
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.10197G>A , J01415.2:m.10197G>A GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361227.2:c.139G>A ENSP00000355206.2:p.Ala47Thr
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