Canonical Allele Identifier: CA2573105286
Gene: MT-ND5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13937_13938dup , J01415.2:m.13937_13938dup GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1601_1602dup ENSP00000354813.2:p.Arg535ThrfsTer7