Canonical Allele Identifier: CA414796652
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chrMT:g.8552T>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8552T>G , J01415.2:m.8552T>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.187T>G (MT-ATP8) ENSP00000355265.1:p.Ser63Ala
ENST00000361899.2:c.26T>G (MT-ATP6) ENSP00000354632.2:p.Phe9Cys