Canonical Allele Identifier: CA575783402

Gene: BUD23

Linked Data

• dbSNP Id: rs1347821133
• gnomAD v2: 7-73097907-A-G
• gnomAD v3: 7-73683577-A-G
• gnomAD v4: 7-73683577-A-G
• MyVariant Identifiers: chr7:g.73097907A>G (hg19) ; chr7:g.73683577A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683577A>G , CM000669.2:g.73683577A>G	GRCh38
NC_000007.13:g.73097907A>G , CM000669.1:g.73097907A>G	GRCh37
NC_000007.12:g.72735843A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265758.6:c.-49A>G	ENSP00000265758.2:n.-49A>G
ENST00000421304.5:c.-261A>G	ENSP00000391761.2:n.-261A>G
ENST00000421744.5:c.-49A>G	ENSP00000404981.1:n.-49A>G
ENST00000432522.5:c.-49A>G	ENSP00000390136.1:n.-49A>G
ENST00000464615.1:n.359+194A>G
NM_001202560.2:c.-49A>G	NP_001189489.1:n.-49A>G
NM_017528.4:c.-49A>G	NP_059998.2:n.-49A>G
NR_037776.2:n.10A>G
NR_045512.1:n.10A>G
XM_006715847.1:c.-77A>G	XP_006715910.1:n.-77A>G
XM_011515778.1:c.-77A>G	XP_011514080.1:n.-77A>G
XM_011515779.1:c.-49A>G	XP_011514081.1:n.-49A>G
XR_927349.1:n.12A>G
XR_927350.1:n.12A>G
XM_011515779.2:c.-49A>G	XP_011514081.1:n.-49A>G
XR_002956407.1:n.7A>G