Canonical Allele Identifier: CA414796287
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692874
ClinVar RCV Id: RCV000854204
dbSNP Id: rs1603221521
MyVariant Identifiers: chrMT:g.8481C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8481C>T , J01415.2:m.8481C>T GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361851.1:c.116C>T ENSP00000355265.1:p.Pro39Leu
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