Canonical Allele Identifier: CA414801686
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693038
ClinVar RCV Id: RCV000854380
dbSNP Id: rs1556423580
MyVariant Identifiers: chrMT:g.8966T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8966T>C , J01415.2:m.8966T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.440T>C ENSP00000354632.2:p.Ile147Thr
Search 100 bp 5'
Search 100 bp 3'