Canonical Allele Identifier: CA160072906
Gene: BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs918751113
gnomAD v2: 7-73097848-G-A
gnomAD v3: 7-73683518-G-A
gnomAD v4: 7-73683518-G-A
MyVariant Identifiers: chr7:g.73097848G>A (hg19) chr7:g.73683518G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683518G>A , CM000669.2:g.73683518G>A GRCh38
NC_000007.13:g.73097848G>A , CM000669.1:g.73097848G>A GRCh37
NC_000007.12:g.72735784G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+135G>A
Search 100 bp 5'
Search 100 bp 3'