Canonical Allele Identifier: CA575783398
Gene: BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1554611934
gnomAD v2: 7-73097865-A-G
gnomAD v3: 7-73683535-A-G
gnomAD v4: 7-73683535-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683535A>G , CM000669.2:g.73683535A>G GRCh38
NC_000007.13:g.73097865A>G , CM000669.1:g.73097865A>G GRCh37
NC_000007.12:g.72735801A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+152A>G