Canonical Allele Identifier: CA414795864
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 445618
ClinVar RCV Id: RCV000514213 RCV000854167
dbSNP Id: rs1556423437
MyVariant Identifiers: chrMT:g.8382C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8382C>T , J01415.2:m.8382C>T GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361851.1:c.17C>T ENSP00000355265.1:p.Thr6Ile
Search 100 bp 5'
Search 100 bp 3'