Canonical Allele Identifier: CA10581375
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 235613
ClinVar RCV Id: RCV000224780
dbSNP Id: rs878853080
MyVariant Identifiers: chrMT:g.12681T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12681T>C , J01415.2:m.12681T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.345T>C ENSP00000354813.2:p.Asn115=