Canonical Allele Identifier: CA120592
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 9638
ClinVar RCV Id: RCV000010270 RCV000854170
dbSNP Id: rs1556423442
MyVariant Identifiers: chrMT:g.8393C>T (hg38)
PubMed: PMID:9243242 PMID:17101920
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8393C>T , J01415.2:m.8393C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.28C>T ENSP00000355265.1:p.Pro10Ser
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