Canonical Allele Identifier: CA4290049

Gene: BUD23

Linked Data

• dbSNP Id: rs542834009
• ExAC: 7:73097909 C / T
• gnomAD v2: 7-73097909-C-T
• gnomAD v3: 7-73683579-C-T
• gnomAD v4: 7-73683579-C-T
• MyVariant Identifiers: chr7:g.73097909C>T (hg19) ; chr7:g.73683579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683579C>T , CM000669.2:g.73683579C>T	GRCh38
NC_000007.13:g.73097909C>T , CM000669.1:g.73097909C>T	GRCh37
NC_000007.12:g.72735845C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265758.6:c.-47C>T	ENSP00000265758.2:n.-47C>T
ENST00000421304.5:c.-259C>T	ENSP00000391761.2:n.-259C>T
ENST00000421744.5:c.-47C>T	ENSP00000404981.1:n.-47C>T
ENST00000432522.5:c.-47C>T	ENSP00000390136.1:n.-47C>T
ENST00000464615.1:n.359+196C>T
NM_001202560.2:c.-47C>T	NP_001189489.1:n.-47C>T
NM_017528.4:c.-47C>T	NP_059998.2:n.-47C>T
NR_037776.2:n.12C>T
NR_045512.1:n.12C>T
XM_006715847.1:c.-75C>T	XP_006715910.1:n.-75C>T
XM_011515778.1:c.-75C>T	XP_011514080.1:n.-75C>T
XM_011515779.1:c.-47C>T	XP_011514081.1:n.-47C>T
XR_927349.1:n.14C>T
XR_927350.1:n.14C>T
XM_011515779.2:c.-47C>T	XP_011514081.1:n.-47C>T
XR_002956407.1:n.9C>T