Canonical Allele Identifier: CA2573104443
Gene: MT-ND1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3495dup , J01415.2:m.3495dup GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.189dup ENSP00000354687.2:p.Ala64ArgfsTer?