Canonical Allele Identifier: CA120633

Gene: MT-ND5

Linked Data

• ClinVar Variation Id: 9703
• ClinVar RCV Id: RCV000010347 ; RCV000010348 ; RCV000010349 ; RCV000854885 ; RCV002260592
• dbSNP Id: rs267606898
• COSMIC: COSM5652748
• MyVariant Identifiers: chrMT:g.13042G>A (hg38)
• ERepo: CA120633/MONDO:0044970/014
• PubMed: PMID:15767514 ; PMID:17400793

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.13042G>A , J01415.2:m.13042G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361567.2:c.706G>A	ENSP00000354813.2:p.Ala236Thr