Canonical Allele Identifier: CA345911

Gene: MT-ND1

Linked Data

• ClinVar Variation Id: 155881
• ClinVar RCV Id: RCV000144000 ; RCV002260617 ; RCV002285011
• dbSNP Id: rs587776434
• MyVariant Identifiers: chrMT:g.3890G>A (hg38)
• ERepo: CA345911/MONDO:0044970/014
• PubMed: PMID:18504678 ; PMID:20301352

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3890G>A , J01415.2:m.3890G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361390.2:c.584G>A	ENSP00000354687.2:p.Arg195Gln