Canonical Allele Identifier: CA340944
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9725
ClinVar RCV Id: RCV000010375 RCV000507319 RCV000853650
dbSNP Id: rs41460449
MyVariant Identifiers: chrMT:g.3394T>C (hg38)
PubMed: PMID:1442494 PMID:1444915 PMID:1732158
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3394T>C , J01415.2:m.3394T>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361390.2:c.88T>C ENSP00000354687.2:p.Tyr30His
Search 100 bp 5'
Search 100 bp 3'