Canonical Allele Identifier: CA414796671
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

dbSNP Id: rs2068710054
MyVariant Identifiers: chrMT:g.8555T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8555T>C , J01415.2:m.8555T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.190T>C (MT-ATP8) ENSP00000355265.1:p.Leu64=
ENST00000361899.2:c.29T>C (MT-ATP6) ENSP00000354632.2:p.Ile10Thr