Canonical Allele Identifier: CA340928
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 9647
ClinVar RCV Id: RCV000010282 RCV000240612 RCV000495689 RCV000754648 RCV001267926 RCV001542709 RCV002267606 RCV003224857
dbSNP Id: rs199476138
MyVariant Identifiers: chrMT:g.9185T>C (hg38)
ERepo: CA340928/MONDO:0044970/014
PubMed: PMID:16217706 PMID:17352390 PMID:20301352 PMID:20301532 PMID:22933740
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9185T>C , J01415.2:m.9185T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.659T>C ENSP00000354632.2:p.Leu220Pro
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