Canonical Allele Identifier: CA186112
Gene: SNRPB HGNC NCBI

Linked Data

ClinVar Variation Id: 183434
ClinVar RCV Id: RCV000162252
dbSNP Id: rs786201021
MyVariant Identifiers: chr20:g.2447847G>T (hg19) chr20:g.2467201G>T (hg38)
PubMed: PMID:25047197 PMID:25504470
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2467201G>T , CM000682.2:g.2467201G>T GRCh38
NC_000020.10:g.2447847G>T , CM000682.1:g.2447847G>T GRCh37
NC_000020.9:g.2395847G>T NCBI36
NG_042057.1:g.8653C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000688423.1:n.658C>A
ENST00000688775.1:n.658C>A
ENST00000689440.1:n.369C>A
ENST00000690623.1:n.319C>A
ENST00000693393.1:n.660C>A
ENST00000381342.7:c.155+406C>A MANE Select ENSP00000370746.3:n.155+406C>A
ENST00000339610.10:c.155+406C>A ENSP00000342305.7:n.155+406C>A
ENST00000381342.6:c.155+406C>A ENSP00000370746.2:n.155+406C>A
ENST00000438552.6:c.155+406C>A ENSP00000412566.2:n.155+406C>A
ENST00000474384.2:c.*57C>A ENSP00000474579.1:n.*57C>A
NM_003091.3:c.155+406C>A NP_003082.1:n.155+406C>A
NM_198216.1:c.155+406C>A NP_937859.1:n.155+406C>A
NM_003091.4:c.155+406C>A MANE Select NP_003082.1:n.155+406C>A
NM_198216.2:c.155+406C>A NP_937859.1:n.155+406C>A
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