Canonical Allele Identifier: CA120595

Gene: MT-ATP8 MT-ATP6

Linked Data

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

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