Canonical Allele Identifier: CA120598

Gene: MT-ATP6

Linked Data

• ClinVar Variation Id: 9645
• ClinVar RCV Id: RCV000010280 ; RCV000144005 ; RCV001268336 ; RCV001542705 ; RCV002221472
• dbSNP Id: rs199476136
• MyVariant Identifiers: chrMT:g.8851T>C (hg38)
• PubMed: PMID:8554662 ; PMID:20301352
• ERepo: CA120598/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8851T>C , J01415.2:m.8851T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.325T>C	ENSP00000354632.2:p.Ter109Arg