Canonical Allele Identifier: CA2573105321
Gene: MT-CYB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14893_14894del , J01415.2:m.14893_14894del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361789.2:c.147_148del ENSP00000354554.2:p.Phe50ProfsTer?