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Canonical Allele Identifier:
CA414801916
Gene: MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693058
ClinVar RCV Id:
RCV000854402
RCV001526416
dbSNP Id:
rs1603221987
COSMIC:
COSM1155688
COSM1155689
MyVariant Identifiers:
chrMT:g.9026G>A (hg38)
ERepo:
CA414801916/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9026G>A , J01415.2:m.9026G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.500G>A
ENSP00000354632.2:p.Gly167Asp
Search 100 bp 5'
Search 100 bp 3'