Canonical Allele Identifier: CA345921

Gene: MT-ATP6

Linked Data

• ClinVar Variation Id: 155892
• ClinVar RCV Id: RCV000144024 ; RCV000495688
• dbSNP Id: rs1556423547
• MyVariant Identifiers: chrMT:g.8839G>C (hg38)
• PubMed: PMID:20301352 ; PMID:24118886

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8839G>C , J01415.2:m.8839G>C	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361899.2:c.313G>C	ENSP00000354632.2:p.Ala105Pro