Canonical Allele Identifier: CA337097912
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692889
ClinVar RCV Id: RCV000854222
dbSNP Id: rs386829039
MyVariant Identifiers: chrMT:g.8533G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8533G>A , J01415.2:m.8533G>A GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361851.1:c.168G>A (MT-ATP8) ENSP00000355265.1:p.Thr56=
ENST00000361899.2:c.7G>A (MT-ATP6) ENSP00000354632.2:p.Glu3Lys
Search 100 bp 5'
Search 100 bp 3'