Canonical Allele Identifier: CA10581379
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 235626
ClinVar RCV Id: RCV000224510 RCV000854261
dbSNP Id: rs41427749
MyVariant Identifiers: chrMT:g.8616G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8616G>T , J01415.2:m.8616G>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.90G>T ENSP00000354632.2:p.Leu30Phe
Search 100 bp 5'
Search 100 bp 3'