Canonical Allele Identifier: CA2578928975
Gene: BUD23 HGNC NCBI

Linked Data

gnomAD v4: 7-73683552-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683552C>T , CM000669.2:g.73683552C>T GRCh38
NC_000007.13:g.73097882C>T , CM000669.1:g.73097882C>T GRCh37
NC_000007.12:g.72735818C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+169C>T