Canonical Allele Identifier: CA2578928963
Gene: BUD23 HGNC NCBI

Linked Data

gnomAD v4: 7-73683505-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683505A>C , CM000669.2:g.73683505A>C GRCh38
NC_000007.13:g.73097835A>C , CM000669.1:g.73097835A>C GRCh37
NC_000007.12:g.72735771A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+122A>C
Search 100 bp 5'
Search 100 bp 3'