Canonical Allele Identifier: CA414796407
Gene: MT-ATP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 692881
ClinVar RCV Id: RCV000854211
dbSNP Id: rs1603221546
MyVariant Identifiers: chrMT:g.8507A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8507A>G , J01415.2:m.8507A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.142A>G ENSP00000355265.1:p.Asn48Asp
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