Canonical Allele Identifier: CA345918

Gene: MT-ND5

Linked Data

• ClinVar Variation Id: 155889
• ClinVar RCV Id: RCV000144017 ; RCV002260618 ; RCV003333959
• dbSNP Id: rs587776440
• MyVariant Identifiers: chrMT:g.13514A>G (hg38)
• ERepo: CA345918/MONDO:0044970/014
• PubMed: PMID:14684687 ; PMID:15576045 ; PMID:20301352

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.13514A>G , J01415.2:m.13514A>G	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361567.2:c.1178A>G	ENSP00000354813.2:p.Asp393Gly