Canonical Allele Identifier: CA120626

Gene: MT-ND6

Linked Data

• ClinVar Variation Id: 9690
• ClinVar RCV Id: RCV000010329 ; RCV000055704
• dbSNP Id: rs387906424
• MyVariant Identifiers: chrMT:g.14596A>T (hg38)
• ERepo: CA120626/MONDO:0044970/014
• PubMed: PMID:8644732 ; PMID:20301353

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.14596A>T , J01415.2:m.14596A>T	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361681.2:c.78T>A	ENSP00000354665.2:p.Ile26=