Canonical Allele Identifier: CA414774286
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692428
ClinVar RCV Id: RCV000853741
dbSNP Id: rs1603219323
MyVariant Identifiers: chrMT:g.4148G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4148G>A , J01415.2:m.4148G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.842G>A ENSP00000354687.2:p.Arg281His
Search 100 bp 5'
Search 100 bp 3'