Canonical Allele Identifier: CA414798917
Gene: MT-ATP6 HGNC NCBI

Linked Data

dbSNP Id: rs2124595089
MyVariant Identifiers: chrMT:g.8915C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8915C>T , J01415.2:m.8915C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.389C>T ENSP00000354632.2:p.Pro130Leu