Canonical Allele Identifier: CA16603197
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 376876
ClinVar RCV Id: RCV000423626 RCV000854431 RCV003319196
dbSNP Id: rs1057520079
MyVariant Identifiers: chrMT:g.9091A>G (hg38)
ERepo: CA16603197/MONDO:0044970/014
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9091A>G , J01415.2:m.9091A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.565A>G ENSP00000354632.2:p.Thr189Ala
Search 100 bp 5'
Search 100 bp 3'