Canonical Allele Identifier: CA160072948

Gene: BUD23

Linked Data

• dbSNP Id: rs948097250
• gnomAD v2: 7-73097900-C-T
• gnomAD v3: 7-73683570-C-T
• gnomAD v4: 7-73683570-C-T
• MyVariant Identifiers: chr7:g.73097900C>T (hg19) ; chr7:g.73683570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683570C>T , CM000669.2:g.73683570C>T	GRCh38
NC_000007.13:g.73097900C>T , CM000669.1:g.73097900C>T	GRCh37
NC_000007.12:g.72735836C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265758.6:c.-56C>T	ENSP00000265758.2:n.-56C>T
ENST00000421304.5:c.-268C>T	ENSP00000391761.2:n.-268C>T
ENST00000464615.1:n.359+187C>T
NM_001202560.2:c.-56C>T	NP_001189489.1:n.-56C>T
NM_017528.4:c.-56C>T	NP_059998.2:n.-56C>T
NR_037776.2:n.3C>T
NR_045512.1:n.3C>T
XR_927349.1:n.5C>T
XR_927350.1:n.5C>T