Canonical Allele Identifier: CA2578928966
Gene: BUD23 HGNC NCBI

Linked Data

gnomAD v4: 7-73683512-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683512G>A , CM000669.2:g.73683512G>A GRCh38
NC_000007.13:g.73097842G>A , CM000669.1:g.73097842G>A GRCh37
NC_000007.12:g.72735778G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+129G>A