Canonical Allele Identifier: CA842011334
Gene: BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1323608804
gnomAD v3: 7-73683543-A-C
gnomAD v4: 7-73683543-A-C
MyVariant Identifiers: chr7:g.73683543A>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683543A>C , CM000669.2:g.73683543A>C GRCh38
NC_000007.13:g.73097873A>C , CM000669.1:g.73097873A>C GRCh37
NC_000007.12:g.72735809A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+160A>C