ClinGen Allele Registry
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Canonical Allele Identifier:
CA414795927
Gene: MT-ATP8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692843
ClinVar RCV Id:
RCV000854173
dbSNP Id:
rs1603221456
MyVariant Identifiers:
chrMT:g.8397C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8397C>G , J01415.2:m.8397C>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.32C>G
ENSP00000355265.1:p.Thr11Ser
Search 100 bp 5'
Search 100 bp 3'