Canonical Allele Identifier: CA1717166521
Gene: BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs782437727
gnomAD v4: 7-73683458-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683458C>T , CM000669.2:g.73683458C>T GRCh38
NC_000007.13:g.73097788C>T , CM000669.1:g.73097788C>T GRCh37
NC_000007.12:g.72735724C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+75C>T