Canonical Allele Identifier: CA2739234035
Gene: MT-ATP8 HGNC NCBI

Linked Data

dbSNP Id: rs2124594722

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8519_8520del , J01415.2:m.8519_8520del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.154_155del ENSP00000355265.1:p.Glu52ThrfsTer?