Canonical Allele Identifier: CA575783394
Gene: BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1162601902
gnomAD v2: 7-73097838-G-A
gnomAD v3: 7-73683508-G-A
gnomAD v4: 7-73683508-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683508G>A , CM000669.2:g.73683508G>A GRCh38
NC_000007.13:g.73097838G>A , CM000669.1:g.73097838G>A GRCh37
NC_000007.12:g.72735774G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+125G>A