Canonical Allele Identifier: CA414796281
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692873
ClinVar RCV Id: RCV000854203
dbSNP Id: rs1603221520
MyVariant Identifiers: chrMT:g.8480C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8480C>T , J01415.2:m.8480C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.115C>T ENSP00000355265.1:p.Pro39Ser
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