Canonical Allele Identifier: CA340950
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9736
ClinVar RCV Id: RCV000010389 RCV002221475
dbSNP Id: rs199476125
MyVariant Identifiers: chrMT:g.3733G>A (hg38)
ERepo: CA340950/MONDO:0044970/014
PubMed: PMID:15505787 PMID:20301353
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3733G>A , J01415.2:m.3733G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.427G>A ENSP00000354687.2:p.Glu143Lys
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