Canonical Allele Identifier: CA259736

Gene: MT-ND1

Linked Data

• ClinVar Variation Id: 29998
• ClinVar RCV Id: RCV000022892 ; RCV000853648
• dbSNP Id: rs387906730
• MyVariant Identifiers: chrMT:g.3388C>A (hg38)
• PubMed: PMID:17637808 ; PMID:22241583

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3388C>A , J01415.2:m.3388C>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361390.2:c.82C>A	ENSP00000354687.2:p.Leu28Ile