Canonical Allele Identifier: CA414802145
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693079
ClinVar RCV Id: RCV000854425
dbSNP Id: rs1556423607
MyVariant Identifiers: chrMT:g.9080A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9080A>G , J01415.2:m.9080A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.554A>G ENSP00000354632.2:p.Asn185Ser
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