Canonical Allele Identifier: CA913174037
Gene: MT-CYB HGNC NCBI

Linked Data

ClinVar Variation Id: 693893
ClinVar RCV Id: RCV000855309
dbSNP Id: rs1603225317

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.15500G>A , J01415.2:m.15500G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361789.2:c.754G>A ENSP00000354554.2:p.Asp252Asn