Canonical Allele Identifier: CA842011218
Gene: BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1416827848
gnomAD v3: 7-73683507-G-T
gnomAD v4: 7-73683507-G-T
MyVariant Identifiers: chr7:g.73683507G>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683507G>T , CM000669.2:g.73683507G>T GRCh38
NC_000007.13:g.73097837G>T , CM000669.1:g.73097837G>T GRCh37
NC_000007.12:g.72735773G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+124G>T