Canonical Allele Identifier: CA4290048

Gene: BUD23

Linked Data

• dbSNP Id: rs782632165
• ExAC: 7:73097908 C / G
• gnomAD v2: 7-73097908-C-G
• gnomAD v3: 7-73683578-C-G
• gnomAD v4: 7-73683578-C-G
• MyVariant Identifiers: chr7:g.73097908C>G (hg19) ; chr7:g.73683578C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683578C>G , CM000669.2:g.73683578C>G	GRCh38
NC_000007.13:g.73097908C>G , CM000669.1:g.73097908C>G	GRCh37
NC_000007.12:g.72735844C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265758.6:c.-48C>G	ENSP00000265758.2:n.-48C>G
ENST00000421304.5:c.-260C>G	ENSP00000391761.2:n.-260C>G
ENST00000421744.5:c.-48C>G	ENSP00000404981.1:n.-48C>G
ENST00000432522.5:c.-48C>G	ENSP00000390136.1:n.-48C>G
ENST00000464615.1:n.359+195C>G
NM_001202560.2:c.-48C>G	NP_001189489.1:n.-48C>G
NM_017528.4:c.-48C>G	NP_059998.2:n.-48C>G
NR_037776.2:n.11C>G
NR_045512.1:n.11C>G
XM_006715847.1:c.-76C>G	XP_006715910.1:n.-76C>G
XM_011515778.1:c.-76C>G	XP_011514080.1:n.-76C>G
XM_011515779.1:c.-48C>G	XP_011514081.1:n.-48C>G
XR_927349.1:n.13C>G
XR_927350.1:n.13C>G
XM_011515779.2:c.-48C>G	XP_011514081.1:n.-48C>G
XR_002956407.1:n.8C>G