Canonical Allele Identifier: CA10581348
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 235539
ClinVar RCV Id: RCV000224431
dbSNP Id: rs878853061
MyVariant Identifiers: chrMT:g.4218T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4218T>C , J01415.2:m.4218T>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361390.2:c.912T>C ENSP00000354687.2:p.Tyr304=