Canonical Allele Identifier: CA4290051

Gene: BUD23

Linked Data

• dbSNP Id: rs370373506
• ExAC: 7:73097915 C / T
• gnomAD v2: 7-73097915-C-T
• gnomAD v3: 7-73683585-C-T
• gnomAD v4: 7-73683585-C-T
• MyVariant Identifiers: chr7:g.73097915C>T (hg19) ; chr7:g.73683585C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683585C>T , CM000669.2:g.73683585C>T	GRCh38
NC_000007.13:g.73097915C>T , CM000669.1:g.73097915C>T	GRCh37
NC_000007.12:g.72735851C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265758.6:c.-41C>T	ENSP00000265758.2:n.-41C>T
ENST00000421304.5:c.-253C>T	ENSP00000391761.2:n.-253C>T
ENST00000421744.5:c.-41C>T	ENSP00000404981.1:n.-41C>T
ENST00000432522.5:c.-41C>T	ENSP00000390136.1:n.-41C>T
ENST00000464615.1:n.359+202C>T
NM_001202560.2:c.-41C>T	NP_001189489.1:n.-41C>T
NM_017528.4:c.-41C>T	NP_059998.2:n.-41C>T
NR_037776.2:n.18C>T
NR_045512.1:n.18C>T
XM_006715847.1:c.-69C>T	XP_006715910.1:n.-69C>T
XM_011515778.1:c.-69C>T	XP_011514080.1:n.-69C>T
XM_011515779.1:c.-41C>T	XP_011514081.1:n.-41C>T
XR_927349.1:n.20C>T
XR_927350.1:n.20C>T
XM_011515779.2:c.-41C>T	XP_011514081.1:n.-41C>T
XR_002956407.1:n.15C>T