Canonical Allele Identifier: CA254863

Gene: MT-ND1

Linked Data

• ClinVar Variation Id: 9735
• ClinVar RCV Id: RCV000010388
• dbSNP Id: rs199476124
• MyVariant Identifiers: chrMT:g.3949T>C (hg38)
• PubMed: PMID:15466014

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3949T>C , J01415.2:m.3949T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361390.2:c.643T>C	ENSP00000354687.2:p.Tyr215His