Canonical Allele Identifier: CA842011372
Gene: BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1194408127
gnomAD v3: 7-73683561-G-A
gnomAD v4: 7-73683561-G-A
MyVariant Identifiers: chr7:g.73683561G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683561G>A , CM000669.2:g.73683561G>A GRCh38
NC_000007.13:g.73097891G>A , CM000669.1:g.73097891G>A GRCh37
NC_000007.12:g.72735827G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+178G>A