Canonical Allele Identifier: CA414772659
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692346
ClinVar RCV Id: RCV000853646
dbSNP Id: rs1603218926
COSMIC: COSM1599865 COSM1599866
MyVariant Identifiers: chrMT:g.3380G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3380G>A , J01415.2:m.3380G>A GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361390.2:c.74G>A ENSP00000354687.2:p.Arg25Gln
Search 100 bp 5'
Search 100 bp 3'