Canonical Allele Identifier: CA199769
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 191364
ClinVar RCV Id: RCV000171545 RCV000854381 RCV002247579 RCV002260628
dbSNP Id: rs794726857
MyVariant Identifiers: chrMT:g.8969G>A (hg38)
ERepo: CA199769/MONDO:0044970/014
PubMed: PMID:25037980
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8969G>A , J01415.2:m.8969G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.443G>A ENSP00000354632.2:p.Ser148Asn
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