Canonical Allele Identifier: CA4290050

Gene: BUD23

Linked Data

• dbSNP Id: rs782705622
• ExAC: 7:73097914 G / A
• gnomAD v2: 7-73097914-G-A
• gnomAD v3: 7-73683584-G-A
• gnomAD v4: 7-73683584-G-A
• MyVariant Identifiers: chr7:g.73097914G>A (hg19) ; chr7:g.73683584G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683584G>A , CM000669.2:g.73683584G>A	GRCh38
NC_000007.13:g.73097914G>A , CM000669.1:g.73097914G>A	GRCh37
NC_000007.12:g.72735850G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265758.6:c.-42G>A	ENSP00000265758.2:n.-42G>A
ENST00000421304.5:c.-254G>A	ENSP00000391761.2:n.-254G>A
ENST00000421744.5:c.-42G>A	ENSP00000404981.1:n.-42G>A
ENST00000432522.5:c.-42G>A	ENSP00000390136.1:n.-42G>A
ENST00000464615.1:n.359+201G>A
NM_001202560.2:c.-42G>A	NP_001189489.1:n.-42G>A
NM_017528.4:c.-42G>A	NP_059998.2:n.-42G>A
NR_037776.2:n.17G>A
NR_045512.1:n.17G>A
XM_006715847.1:c.-70G>A	XP_006715910.1:n.-70G>A
XM_011515778.1:c.-70G>A	XP_011514080.1:n.-70G>A
XM_011515779.1:c.-42G>A	XP_011514081.1:n.-42G>A
XR_927349.1:n.19G>A
XR_927350.1:n.19G>A
XM_011515779.2:c.-42G>A	XP_011514081.1:n.-42G>A
XR_002956407.1:n.14G>A