Canonical Allele Identifier: CA414796541
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

dbSNP Id: rs2068709868
MyVariant Identifiers: chrMT:g.8532C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8532C>T , J01415.2:m.8532C>T GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361851.1:c.167C>T (MT-ATP8) ENSP00000355265.1:p.Thr56Met
ENST00000361899.2:c.6C>T (MT-ATP6) ENSP00000354632.2:p.Asn2=