Canonical Allele Identifier: CA250381

Gene: MT-ND6

Linked Data

• ClinVar Variation Id: 209173
• ClinVar RCV Id: RCV000191107 ; RCV000855132 ; RCV002247618
• dbSNP Id: rs797045055
• MyVariant Identifiers: chrMT:g.14597A>G (hg38)
• ERepo: CA250381/MONDO:0044970/014
• PubMed: PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.14597A>G , J01415.2:m.14597A>G	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361681.2:c.77T>C	ENSP00000354665.2:p.Ile26Thr