Canonical Allele Identifier: CA414799126
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 590268
ClinVar RCV Id: RCV000766134 RCV000854374
dbSNP Id: rs1556423574
COSMIC: COSM1155686 COSM1155687
MyVariant Identifiers: chrMT:g.8950G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8950G>A , J01415.2:m.8950G>A GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361899.2:c.424G>A ENSP00000354632.2:p.Val142Ile
Search 100 bp 5'
Search 100 bp 3'