Canonical Allele Identifier: CA2683240748
Gene: BUD23 HGNC NCBI

Linked Data

gnomAD v4: 7-73683483-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683483C>A , CM000669.2:g.73683483C>A GRCh38
NC_000007.13:g.73097813C>A , CM000669.1:g.73097813C>A GRCh37
NC_000007.12:g.72735749C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+100C>A