Canonical Allele Identifier: CA199769

Gene: MT-ATP6

Linked Data

• ClinVar Variation Id: 191364
• ClinVar RCV Id: RCV000171545 ; RCV000854381 ; RCV002247579 ; RCV002260628
• dbSNP Id: rs794726857
• MyVariant Identifiers: chrMT:g.8969G>A (hg38)
• ERepo: CA199769/MONDO:0044970/014
• PubMed: PMID:25037980

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8969G>A , J01415.2:m.8969G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361899.2:c.443G>A	ENSP00000354632.2:p.Ser148Asn