Canonical Allele Identifier: CA414812931
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693432
ClinVar RCV Id: RCV000854802
dbSNP Id: rs1603223710
MyVariant Identifiers: chrMT:g.12389C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12389C>T , J01415.2:m.12389C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.53C>T ENSP00000354813.2:p.Pro18Leu
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