Canonical Allele Identifier: CA337096809
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692429
ClinVar RCV Id: RCV000853742
dbSNP Id: rs28566134
COSMIC: COSM1155631 COSM1155632
MyVariant Identifiers: chrMT:g.4153G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4153G>A , J01415.2:m.4153G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.847G>A ENSP00000354687.2:p.Asp283Asn
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Search 100 bp 3'