Canonical Allele Identifier: CA575783395
Gene: BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1211040327
gnomAD v2: 7-73097855-T-G
gnomAD v3: 7-73683525-T-G
gnomAD v4: 7-73683525-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683525T>G , CM000669.2:g.73683525T>G GRCh38
NC_000007.13:g.73097855T>G , CM000669.1:g.73097855T>G GRCh37
NC_000007.12:g.72735791T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+142T>G