Canonical Allele Identifier: CA414796394
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692880
ClinVar RCV Id: RCV000854210
dbSNP Id: rs1603221542
MyVariant Identifiers: chrMT:g.8504T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8504T>C , J01415.2:m.8504T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.139T>C ENSP00000355265.1:p.Tyr47His
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