Canonical Allele Identifier: CA337097904
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692884
ClinVar RCV Id: RCV000854214
dbSNP Id: rs878928585
MyVariant Identifiers: chrMT:g.8516T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8516T>C , J01415.2:m.8516T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.151T>C ENSP00000355265.1:p.Ter51Arg