Canonical Allele Identifier: CA414796527
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692887
ClinVar RCV Id: RCV000854220
dbSNP Id: rs1556423480
MyVariant Identifiers: chrMT:g.8530A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8530A>G , J01415.2:m.8530A>G GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361851.1:c.165A>G (MT-ATP8) ENSP00000355265.1:p.Ter55Trp
ENST00000361899.2:c.4A>G (MT-ATP6) ENSP00000354632.2:p.Asn2Asp
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