Canonical Allele Identifier: CA250380
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 9641
dbSNP Id: rs199476133
MyVariant Identifiers: chrMT:g.8993T>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8993T>G , J01415.2:m.8993T>G GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361899.2:c.467T>G ENSP00000354632.2:p.Leu156Arg