Canonical Allele Identifier: CA391685362
Gene: BUB1B HGNC NCBI

Linked Data

dbSNP Id: rs1196631595
gnomAD v4: 15-40185643-G-A
MyVariant Identifiers: chr15:g.40477844G>A (hg19) chr15:g.40185643G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40185643G>A , CM000677.2:g.40185643G>A GRCh38
NC_000015.9:g.40477844G>A , CM000677.1:g.40477844G>A GRCh37
NC_000015.8:g.38265136G>A NCBI36
NG_016338.1:g.29635G>A , LRG_489:g.29635G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000287598.11:c.1058+1G>A MANE Select ENSP00000287598.7:n.1058+1G>A
ENST00000287598.10:c.1058+1G>A ENSP00000287598.6:n.1058+1G>A
ENST00000412359.7:c.1100+1G>A ENSP00000398470.3:n.1100+1G>A
ENST00000557848.1:n.317+1G>A
ENST00000559733.5:c.170+1760G>A
ENST00000559772.1:n.171+1G>A
NM_001211.5:c.1058+1G>A , LRG_489t1:c.1058+1G>A NP_001202.4:n.1058+1G>A
XR_001751506.1:n.218-5442C>T
NM_001211.6:c.1058+1G>A MANE Select NP_001202.5:n.1058+1G>A
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