Canonical Allele Identifier: CA345914
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 40153
ClinVar RCV Id: RCV000144006 RCV002221481
dbSNP Id: rs1556423632
MyVariant Identifiers: chrMT:g.9191T>C (hg38)
ERepo: CA345914/MONDO:0044970/014
PubMed: PMID:16217706 PMID:20301352
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9191T>C , J01415.2:m.9191T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.665T>C ENSP00000354632.2:p.Leu222Pro
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