ClinGen Allele Registry
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Canonical Allele Identifier:
CA120593
Gene: MT-ATP8
HGNC
NCBI
MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9639
ClinVar RCV Id:
RCV000010271
dbSNP Id:
rs267606881
MyVariant Identifiers:
chrMT:g.8529G>A (hg38)
PubMed:
PMID:21686774
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8529G>A , J01415.2:m.8529G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361851.1:c.164G>A
(MT-ATP8)
ENSP00000355265.1:p.Ter55=
ENST00000361899.2:c.3G>A
(MT-ATP6)
ENSP00000354632.2:p.Met1Ile
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