Canonical Allele Identifier: CA1717166536
Gene: BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1797791361
gnomAD v4: 7-73683487-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683487C>G , CM000669.2:g.73683487C>G GRCh38
NC_000007.13:g.73097817C>G , CM000669.1:g.73097817C>G GRCh37
NC_000007.12:g.72735753C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+104C>G