Canonical Allele Identifier: CA120595
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 9640
ClinVar RCV Id: RCV000010272 RCV000854219 RCV002260584
dbSNP Id: rs387906422
MyVariant Identifiers: chrMT:g.8528T>C (hg38)
ERepo: CA120595/MONDO:0044970/014
PubMed: PMID:19188198
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8528T>C , J01415.2:m.8528T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.163T>C (MT-ATP8) ENSP00000355265.1:p.Ter55Arg
ENST00000361899.2:c.2T>C (MT-ATP6) ENSP00000354632.2:p.Met1Thr
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