Canonical Allele Identifier: CA414772526
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692332
ClinVar RCV Id: RCV000853632
dbSNP Id: rs2853516
MyVariant Identifiers: chrMT:g.3316G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3316G>C , J01415.2:m.3316G>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.10G>C ENSP00000354687.2:p.Ala4Pro
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