Canonical Allele Identifier: CA414795877
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692839
ClinVar RCV Id: RCV000854168
dbSNP Id: rs1556423439
MyVariant Identifiers: chrMT:g.8387G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8387G>A , J01415.2:m.8387G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.22G>A ENSP00000355265.1:p.Val8Ile
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