Canonical Allele Identifier: CA160072890
Gene: BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs972907334
gnomAD v2: 7-73097829-A-T
gnomAD v3: 7-73683499-A-T
gnomAD v4: 7-73683499-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683499A>T , CM000669.2:g.73683499A>T GRCh38
NC_000007.13:g.73097829A>T , CM000669.1:g.73097829A>T GRCh37
NC_000007.12:g.72735765A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+116A>T