Canonical Allele Identifier: CA120640

Gene: MT-ND3

Linked Data

• ClinVar Variation Id: 9715
• ClinVar RCV Id: RCV000010363 ; RCV000010362 ; RCV000144011 ; RCV000507278 ; RCV002247309 ; RCV002285008 ; RCV002291213 ; RCV004017234
• dbSNP Id: rs267606891
• MyVariant Identifiers: chrMT:g.10197G>A (hg38)
• ERepo: CA120640/MONDO:0044970/014
• PubMed: PMID:17152068 ; PMID:17413873 ; PMID:19458970 ; PMID:20301352

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