Canonical Allele Identifier: CA345922

Gene: MT-ATP6

Linked Data

• ClinVar Variation Id: 155893
• ClinVar RCV Id: RCV000144025
• dbSNP Id: rs587776444
• MyVariant Identifiers: chrMT:g.8989G>C (hg38)
• PubMed: PMID:20301352 ; PMID:23266623

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8989G>C , J01415.2:m.8989G>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.463G>C	ENSP00000354632.2:p.Ala155Pro