Canonical Allele Identifier: CA9732590

Gene: SNRPB

Linked Data

• dbSNP Id: rs747222675
• ExAC: 20:2451388 C / T
• gnomAD v2: 20-2451388-C-T
• gnomAD v4: 20-2470742-C-T
• MyVariant Identifiers: chr20:g.2451388C>T (hg19) ; chr20:g.2470742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470742C>T , CM000682.2:g.2470742C>T	GRCh38
NC_000020.10:g.2451388C>T , CM000682.1:g.2451388C>T	GRCh37
NC_000020.9:g.2399388C>T	NCBI36
NG_042057.1:g.5112G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688423.1:n.46G>A
ENST00000688775.1:n.46G>A
ENST00000689440.1:n.48G>A
ENST00000693393.1:n.48G>A
ENST00000381342.7:c.-52G>A MANE Select	ENSP00000370746.3:n.-52G>A
ENST00000339610.10:c.-52G>A	ENSP00000342305.7:n.-52G>A
ENST00000381342.6:c.-52G>A	ENSP00000370746.2:n.-52G>A
ENST00000438552.6:c.-52G>A	ENSP00000412566.2:n.-52G>A
ENST00000461548.1:c.305-2984G>A	ENSP00000456213.1:n.305-2984G>A
NM_003091.3:c.-52G>A	NP_003082.1:n.-52G>A
NM_198216.1:c.-52G>A	NP_937859.1:n.-52G>A
NM_003091.4:c.-52G>A MANE Select	NP_003082.1:n.-52G>A
NM_198216.2:c.-52G>A	NP_937859.1:n.-52G>A