Canonical Allele Identifier: CA340942
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9723
ClinVar RCV Id: RCV000010372
dbSNP Id: rs199476119
MyVariant Identifiers: chrMT:g.4160T>C (hg38)
ERepo: CA340942/MONDO:0044970/014
PubMed: PMID:1928099 PMID:20301353
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4160T>C , J01415.2:m.4160T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.854T>C ENSP00000354687.2:p.Leu285Pro
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