Canonical Allele Identifier: CA414818123

Gene: MT-ND5

Linked Data

• ClinVar Variation Id: 693559
• ClinVar RCV Id: RCV000854934
• dbSNP Id: rs28654395
• MyVariant Identifiers: chrMT:g.13468C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.13468C>A , J01415.2:m.13468C>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361567.2:c.1132C>A	ENSP00000354813.2:p.Leu378Ile