Canonical Allele Identifier: CA414796241
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692868
ClinVar RCV Id: RCV000854198
dbSNP Id: rs1603221506
MyVariant Identifiers: chrMT:g.8471C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8471C>T , J01415.2:m.8471C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.106C>T ENSP00000355265.1:p.Pro36Ser