Canonical Allele Identifier: CA414796442
Gene: MT-ATP8 HGNC NCBI

Linked Data

MyVariant Identifiers: chrMT:g.8513C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8513C>T , J01415.2:m.8513C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.148C>T ENSP00000355265.1:p.Pro50Ser