Canonical Allele Identifier: CA575783391

Gene: BUD23

Linked Data

• dbSNP Id: rs538353183
• gnomAD v2: 7-73097815-C-T
• gnomAD v3: 7-73683485-C-T
• gnomAD v4: 7-73683485-C-T
• MyVariant Identifiers: chr7:g.73097815C>T (hg19) ; chr7:g.73683485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683485C>T , CM000669.2:g.73683485C>T	GRCh38
NC_000007.13:g.73097815C>T , CM000669.1:g.73097815C>T	GRCh37
NC_000007.12:g.72735751C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464615.1:n.359+102C>T