Canonical Allele Identifier: CA414792783
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692743
ClinVar RCV Id: RCV000854068
dbSNP Id: rs1603220951
MyVariant Identifiers: chrMT:g.7419G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.7419G>A , J01415.2:m.7419G>A GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361624.2:c.1516G>A ENSP00000354499.2:p.Glu506Lys
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Search 100 bp 3'