Canonical Allele Identifier: CA575783397
Gene: BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1305011304
gnomAD v2: 7-73097862-G-A
gnomAD v3: 7-73683532-G-A
gnomAD v4: 7-73683532-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683532G>A , CM000669.2:g.73683532G>A GRCh38
NC_000007.13:g.73097862G>A , CM000669.1:g.73097862G>A GRCh37
NC_000007.12:g.72735798G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+149G>A