Canonical Allele Identifier: CA414799030
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693026
ClinVar RCV Id: RCV000854367
dbSNP Id: rs1603221918
MyVariant Identifiers: chrMT:g.8933C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8933C>T , J01415.2:m.8933C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.407C>T ENSP00000354632.2:p.Pro136Leu