Canonical Allele Identifier: CA414796444
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692883
ClinVar RCV Id: RCV000854213
dbSNP Id: rs1603221554
MyVariant Identifiers: chrMT:g.8514C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8514C>T , J01415.2:m.8514C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.149C>T ENSP00000355265.1:p.Pro50Leu
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