Canonical Allele Identifier: CA414813354
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693450
ClinVar RCV Id: RCV000854821
dbSNP Id: rs1603223760
MyVariant Identifiers: chrMT:g.12479T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12479T>C , J01415.2:m.12479T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.143T>C ENSP00000354813.2:p.Leu48Pro
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