Canonical Allele Identifier: CA414813208
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693445
ClinVar RCV Id: RCV000854816
dbSNP Id: rs1603223748
MyVariant Identifiers: chrMT:g.12448T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12448T>C , J01415.2:m.12448T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.112T>C ENSP00000354813.2:p.Ser38Pro
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