Canonical Allele Identifier: CA270601
Gene: MT-CYB HGNC NCBI

Linked Data

ClinVar Variation Id: 143868
ClinVar RCV Id: RCV000133407
dbSNP Id: rs386419981
MyVariant Identifiers: chrMT:g.14891C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14891C>G , J01415.2:m.14891C>G GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361789.2:c.145C>G ENSP00000354554.2:p.Leu49Val