Canonical Allele Identifier: CA345910

Gene: MT-ND1

Linked Data

• ClinVar Variation Id: 155880
• ClinVar RCV Id: RCV000143999 ; RCV000853660
• dbSNP Id: rs587776433
• MyVariant Identifiers: chrMT:g.3481G>A (hg38)
• PubMed: PMID:18504678 ; PMID:20301352

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3481G>A , J01415.2:m.3481G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361390.2:c.175G>A	ENSP00000354687.2:p.Glu59Lys