Canonical Allele Identifier: CA414796194
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692863
ClinVar RCV Id: RCV000854193
dbSNP Id: rs1603221493
MyVariant Identifiers: chrMT:g.8461C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8461C>A , J01415.2:m.8461C>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.96C>A ENSP00000355265.1:p.Asn32Lys