Canonical Allele Identifier: CA120627

Gene: MT-ND6

Linked Data

• ClinVar Variation Id: 9694
• ClinVar RCV Id: RCV000010334 ; RCV000010333 ; RCV000144020 ; RCV002247307 ; RCV003162239
• dbSNP Id: rs199476109
• MyVariant Identifiers: chrMT:g.14487T>C (hg38)
• ERepo: CA120627/MONDO:0044970/014
• PubMed: PMID:12205655 ; PMID:14520668 ; PMID:14595656 ; PMID:14684687 ; PMID:15576045 ; PMID:20301352

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.14487T>C , J01415.2:m.14487T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361681.2:c.187A>G	ENSP00000354665.2:p.Met63Val