Canonical Allele Identifier: CA337096602
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692376
ClinVar RCV Id: RCV000853682
dbSNP Id: rs2854134
MyVariant Identifiers: chrMT:g.3593T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3593T>C , J01415.2:m.3593T>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361390.2:c.287T>C ENSP00000354687.2:p.Val96Ala