ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA10581395
Gene: MT-ATP8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235671
ClinVar RCV Id:
RCV000224901
RCV000854215
dbSNP Id:
rs878853091
MyVariant Identifiers:
chrMT:g.8519G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8519G>A , J01415.2:m.8519G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.154G>A
ENSP00000355265.1:p.Glu52Lys
Search 100 bp 5'
Search 100 bp 3'