Canonical Allele Identifier: CA120628
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 9698
dbSNP Id: rs267606893
MyVariant Identifiers: chrMT:g.12706T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12706T>C , J01415.2:m.12706T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.370T>C ENSP00000354813.2:p.Phe124Leu