Canonical Allele Identifier: CA10581280
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 235343
ClinVar RCV Id: RCV000224223 RCV000854366 RCV001526415
dbSNP Id: rs878853013
MyVariant Identifiers: chrMT:g.8932C>T (hg38)
ERepo: CA10581280/MONDO:0044970/014
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8932C>T , J01415.2:m.8932C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.406C>T ENSP00000354632.2:p.Pro136Ser
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