Canonical Allele Identifier: CA414796323
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692876
ClinVar RCV Id: RCV000854206
dbSNP Id: rs1603221530
MyVariant Identifiers: chrMT:g.8490T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8490T>C , J01415.2:m.8490T>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361851.1:c.125T>C ENSP00000355265.1:p.Ile42Thr
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