Canonical Allele Identifier: CA414797438
Gene: MT-ATP6 HGNC NCBI

Linked Data

dbSNP Id: rs1603221700
MyVariant Identifiers: chrMT:g.8687C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8687C>T , J01415.2:m.8687C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.161C>T ENSP00000354632.2:p.Ser54Leu