Canonical Allele Identifier: CA1103051497

Gene: BUD23

Linked Data

• dbSNP Id: rs1203846675
• gnomAD v3: 7-73683572-T-C
• gnomAD v4: 7-73683572-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683572T>C , CM000669.2:g.73683572T>C	GRCh38
NC_000007.13:g.73097902T>C , CM000669.1:g.73097902T>C	GRCh37
NC_000007.12:g.72735838T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265758.6:c.-54T>C	ENSP00000265758.2:n.-54T>C
ENST00000421304.5:c.-266T>C	ENSP00000391761.2:n.-266T>C
ENST00000432522.5:c.-54T>C	ENSP00000390136.1:n.-54T>C
ENST00000464615.1:n.359+189T>C
NM_001202560.2:c.-54T>C	NP_001189489.1:n.-54T>C
NM_017528.4:c.-54T>C	NP_059998.2:n.-54T>C
NR_037776.2:n.5T>C
NR_045512.1:n.5T>C
XM_006715847.1:c.-82T>C	XP_006715910.1:n.-82T>C
XM_011515778.1:c.-82T>C	XP_011514080.1:n.-82T>C
XM_011515779.1:c.-54T>C	XP_011514081.1:n.-54T>C
XR_927349.1:n.7T>C
XR_927350.1:n.7T>C
XM_011515779.2:c.-54T>C	XP_011514081.1:n.-54T>C
XR_002956407.1:n.2T>C