Canonical Allele Identifier: CA414796632
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chrMT:g.8549C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8549C>G , J01415.2:m.8549C>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.184C>G (MT-ATP8) ENSP00000355265.1:p.His62Asp
ENST00000361899.2:c.23C>G (MT-ATP6) ENSP00000354632.2:p.Ser8Ter
Search 100 bp 5'
Search 100 bp 3'