Canonical Allele Identifier: CA913174002
Gene: MT-CYB HGNC NCBI

Linked Data

ClinVar Variation Id: 2501808
ClinVar RCV Id: RCV003228227

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.15485C>T , J01415.2:m.15485C>T GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361789.2:c.739C>T ENSP00000354554.2:p.Pro247Ser