Canonical Allele Identifier: CA120600
Gene: MT-CO3 HGNC NCBI

Linked Data

ClinVar Variation Id: 9654
ClinVar RCV Id: RCV000010289 RCV000010290
dbSNP Id: rs267606612
MyVariant Identifiers: chrMT:g.9487_9501del (hg38)
PubMed: PMID:8630495
ERepo: CA120600/MONDO:0044970/014
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9487_9501del , J01415.2:m.9487_9501del GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000362079.2:c.281_295del ENSP00000354982.2:p.Phe94Ter
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