Canonical Allele Identifier: CA414781393
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692611
ClinVar RCV Id: RCV000853930
dbSNP Id: rs1603220245
MyVariant Identifiers: chrMT:g.6052A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6052A>G , J01415.2:m.6052A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.149A>G ENSP00000354499.2:p.Asn50Ser
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