Canonical Allele Identifier: CA344827

Gene: MT-ND1

Linked Data

• ClinVar Variation Id: 65518
• ClinVar RCV Id: RCV000055707 ; RCV002291214
• dbSNP Id: rs397515507
• MyVariant Identifiers: chrMT:g.3635G>A (hg38)
• ERepo: CA344827/MONDO:0044970/014
• PubMed: PMID:20301353

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3635G>A , J01415.2:m.3635G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361390.2:c.329G>A	ENSP00000354687.2:p.Ser110Asn