Canonical Allele Identifier: CA16603352
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 377352
ClinVar RCV Id: RCV000420877
dbSNP Id: rs1057520204
MyVariant Identifiers: chrMT:g.8943C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8943C>T , J01415.2:m.8943C>T GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361899.2:c.417C>T ENSP00000354632.2:p.Pro139=
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