Canonical Allele Identifier: CA414796079
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692856
ClinVar RCV Id: RCV000854186
dbSNP Id: rs1603221480
MyVariant Identifiers: chrMT:g.8433T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8433T>C , J01415.2:m.8433T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.68T>C ENSP00000355265.1:p.Ile23Thr
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