Canonical Allele Identifier: CA16040650
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 370050
dbSNP Id: rs1057516062
MyVariant Identifiers: chrMT:g.8418T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8418T>C , J01415.2:m.8418T>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361851.1:c.53T>C ENSP00000355265.1:p.Leu18Pro