Canonical Allele Identifier: CA120617
Gene: MT-CYB HGNC NCBI

Linked Data

ClinVar Variation Id: 9679
ClinVar RCV Id: RCV000010317 RCV000855169 RCV002265553
dbSNP Id: rs207459998
COSMIC: COSM1497293 COSM1497294
MyVariant Identifiers: chrMT:g.14846G>A (hg38)
PubMed: PMID:10502593
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14846G>A , J01415.2:m.14846G>A GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361789.2:c.100G>A ENSP00000354554.2:p.Gly34Ser
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