Canonical Allele Identifier: CA250587
Gene: MT-CYB HGNC NCBI

Linked Data

ClinVar Variation Id: 9676
ClinVar RCV Id: RCV000010314 RCV000855200
dbSNP Id: rs207459995
MyVariant Identifiers: chrMT:g.14985G>A (hg38)
PubMed: PMID:9806551 PMID:13298683
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14985G>A , J01415.2:m.14985G>A GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361789.2:c.239G>A ENSP00000354554.2:p.Arg80His
Search 100 bp 5'
Search 100 bp 3'