Canonical Allele Identifier: CA414795975
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 930945
ClinVar RCV Id: RCV001196966
dbSNP Id: rs2068708846
MyVariant Identifiers: chrMT:g.8408C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8408C>T , J01415.2:m.8408C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.43C>T ENSP00000355265.1:p.Pro15Ser