Canonical Allele Identifier: CA414812422
Gene: MT-ND4 HGNC NCBI

Linked Data

ClinVar Variation Id: 693409
ClinVar RCV Id: RCV000854777
dbSNP Id: rs1556424049
MyVariant Identifiers: chrMT:g.12083T>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12083T>G , J01415.2:m.12083T>G GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361381.2:c.1324T>G ENSP00000354961.2:p.Ser442Ala