Canonical Allele Identifier: CA414792846
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 631469
ClinVar RCV Id: RCV000778058
dbSNP Id: rs199474818
MyVariant Identifiers: chrMT:g.7445A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.7445A>T , J01415.2:m.7445A>T GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361624.2:c.1542A>T ENSP00000354499.2:p.Arg514Ser
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Search 100 bp 3'