Canonical Allele Identifier: CA120628

Gene: MT-ND5

Linked Data

• ClinVar Variation Id: 9698
• ClinVar RCV Id: RCV000010338 ; RCV000144015 ; RCV002247308 ; RCV002260591
• dbSNP Id: rs267606893
• MyVariant Identifiers: chrMT:g.12706T>C (hg38)
• ERepo: CA120628/MONDO:0044970/014
• PubMed: PMID:11938446 ; PMID:14684687 ; PMID:20301352

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.12706T>C , J01415.2:m.12706T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361567.2:c.370T>C	ENSP00000354813.2:p.Phe124Leu