Canonical Allele Identifier: CA414796268
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692871
ClinVar RCV Id: RCV000854201
dbSNP Id: rs1603221517
MyVariant Identifiers: chrMT:g.8477T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8477T>C , J01415.2:m.8477T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.112T>C ENSP00000355265.1:p.Ser38Pro
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