Canonical Allele Identifier: CA340936

Gene: MT-ND5

Linked Data

• ClinVar Variation Id: 9697
• ClinVar RCV Id: RCV000010337
• dbSNP Id: rs387906425
• MyVariant Identifiers: chrMT:g.13730G>A (hg38)
• PubMed: PMID:8213825 ; PMID:20301353
• ERepo: CA340936/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.13730G>A , J01415.2:m.13730G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361567.2:c.1394G>A	ENSP00000354813.2:p.Gly465Glu