Canonical Allele Identifier: CA120647

Gene: MT-ND1

Linked Data

• ClinVar Variation Id: 9733
• ClinVar RCV Id: RCV000010385 ; RCV000010386 ; RCV000056168 ; RCV002221474 ; RCV003298030
• dbSNP Id: rs199476122
• COSMIC: COSM6119903 ; COSM6119904
• MyVariant Identifiers: chrMT:g.3697G>A (hg38)
• PubMed: PMID:15466014 ; PMID:17562939 ; PMID:20301353
• ERepo: CA120647/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3697G>A , J01415.2:m.3697G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361390.2:c.391G>A	ENSP00000354687.2:p.Gly131Ser