Canonical Allele Identifier: CA337098015
Gene: MT-ATP6 HGNC NCBI

Linked Data

dbSNP Id: rs386829047
MyVariant Identifiers: chrMT:g.8743G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8743G>C , J01415.2:m.8743G>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.217G>C ENSP00000354632.2:p.Val73Leu