Canonical Allele Identifier: CA345911
Gene: MT-ND1 HGNC NCBI

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
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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
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