Canonical Allele Identifier: CA575783390
Gene: BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1554611908
gnomAD v2: 7-73097795-T-C
gnomAD v4: 7-73683465-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683465T>C , CM000669.2:g.73683465T>C GRCh38
NC_000007.13:g.73097795T>C , CM000669.1:g.73097795T>C GRCh37
NC_000007.12:g.72735731T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+82T>C