ClinGen Allele Registry
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Canonical Allele Identifier:
CA160072877
Gene: BUD23
HGNC
NCBI
Linked Data
dbSNP Id:
rs538353183
gnomAD v3:
7-73683485-C-A
gnomAD v4:
7-73683485-C-A
MyVariant Identifiers:
chr7:g.73097815C>A (hg19)
chr7:g.73683485C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.73683485C>A , CM000669.2:g.73683485C>A
GRCh38
NC_000007.13:g.73097815C>A , CM000669.1:g.73097815C>A
GRCh37
NC_000007.12:g.72735751C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000464615.1:n.359+102C>A
Search 100 bp 5'
Search 100 bp 3'