Canonical Allele Identifier: CA414798890
Gene: MT-ATP6 HGNC NCBI

Linked Data

dbSNP Id: rs2068713002
MyVariant Identifiers: chrMT:g.8912T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8912T>C , J01415.2:m.8912T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.386T>C ENSP00000354632.2:p.Leu129Ser