Canonical Allele Identifier: CA414797425
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 585120
ClinVar RCV Id: RCV000709918 RCV000854289
dbSNP Id: rs1569484231
MyVariant Identifiers: chrMT:g.8686T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8686T>C , J01415.2:m.8686T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.160T>C ENSP00000354632.2:p.Ser54Pro
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