Canonical Allele Identifier: CA2578928977
Gene: BUD23 HGNC NCBI

Linked Data

gnomAD v4: 7-73683557-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683557G>T , CM000669.2:g.73683557G>T GRCh38
NC_000007.13:g.73097887G>T , CM000669.1:g.73097887G>T GRCh37
NC_000007.12:g.72735823G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+174G>T