Canonical Allele Identifier: CA120646
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9722
ClinVar RCV Id: RCV000010370 RCV000143998 RCV000735416 RCV000757484
dbSNP Id: rs199476118
MyVariant Identifiers: chrMT:g.3460G>A (hg38)
PubMed: PMID:173472 PMID:1444915 PMID:1550131 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1928099 PMID:1959619 PMID:8496715 PMID:11854175 PMID:12205655 PMID:16738010 PMID:17620555 PMID:20301352 PMID:20301353
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3460G>A , J01415.2:m.3460G>A GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361390.2:c.154G>A ENSP00000354687.2:p.Ala52Thr
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