Canonical Allele Identifier: CA414802139
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693078
ClinVar RCV Id: RCV000854424
dbSNP Id: rs1603222038
MyVariant Identifiers: chrMT:g.9079A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9079A>G , J01415.2:m.9079A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.553A>G ENSP00000354632.2:p.Asn185Asp
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