Canonical Allele Identifier: CA337097855
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692852
ClinVar RCV Id: RCV000854182
dbSNP Id: rs199616772
MyVariant Identifiers: chrMT:g.8417C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8417C>T , J01415.2:m.8417C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.52C>T ENSP00000355265.1:p.Leu18Phe
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