Canonical Allele Identifier: CA842011348
Gene: BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1402281777
gnomAD v3: 7-73683549-A-G
gnomAD v4: 7-73683549-A-G
MyVariant Identifiers: chr7:g.73683549A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683549A>G , CM000669.2:g.73683549A>G GRCh38
NC_000007.13:g.73097879A>G , CM000669.1:g.73097879A>G GRCh37
NC_000007.12:g.72735815A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+166A>G