Canonical Allele Identifier: CA340928

Gene: MT-ATP6

Linked Data

• ClinVar Variation Id: 9647
• ClinVar RCV Id: RCV000010282 ; RCV000240612 ; RCV000495689 ; RCV000754648 ; RCV001267926 ; RCV001542709 ; RCV002267606 ; RCV003224857
• dbSNP Id: rs199476138
• MyVariant Identifiers: chrMT:g.9185T>C (hg38)
• PubMed: PMID:16217706 ; PMID:17352390 ; PMID:20301352 ; PMID:20301532 ; PMID:22933740
• ERepo: CA340928/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.9185T>C , J01415.2:m.9185T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361899.2:c.659T>C	ENSP00000354632.2:p.Leu220Pro