Canonical Allele Identifier: CA414795995
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692849
ClinVar RCV Id: RCV000854179
dbSNP Id: rs1556423451
MyVariant Identifiers: chrMT:g.8412T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8412T>C , J01415.2:m.8412T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.47T>C ENSP00000355265.1:p.Ile16Thr
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