Canonical Allele Identifier: CA337097854
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692850
ClinVar RCV Id: RCV000854180
dbSNP Id: rs28358884
MyVariant Identifiers: chrMT:g.8414C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8414C>T , J01415.2:m.8414C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.49C>T ENSP00000355265.1:p.Leu17Phe
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