Canonical Allele Identifier: CA414796494
Gene: MT-ATP8 HGNC NCBI

Linked Data

dbSNP Id: rs2124594731
MyVariant Identifiers: chrMT:g.8523C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8523C>T , J01415.2:m.8523C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.158C>T ENSP00000355265.1:p.Pro53Leu
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