Canonical Allele Identifier: CA337097930
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692907
ClinVar RCV Id: RCV000854242
dbSNP Id: rs28502681
MyVariant Identifiers: chrMT:g.8572G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8572G>A , J01415.2:m.8572G>A GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361851.1:c.207G>A (MT-ATP8) ENSP00000355265.1:p.Ter69=
ENST00000361899.2:c.46G>A (MT-ATP6) ENSP00000354632.2:p.Gly16Ser