Canonical Allele Identifier: CA9732568

Gene: SNRPB

Linked Data

• dbSNP Id: rs748440984
• ExAC: 20:2451330 T / A
• gnomAD v2: 20-2451330-T-A
• gnomAD v4: 20-2470684-T-A
• MyVariant Identifiers: chr20:g.2451330T>A (hg19) ; chr20:g.2470684T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470684T>A , CM000682.2:g.2470684T>A	GRCh38
NC_000020.10:g.2451330T>A , CM000682.1:g.2451330T>A	GRCh37
NC_000020.9:g.2399330T>A	NCBI36
NG_042057.1:g.5170A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688423.1:n.100+4A>T
ENST00000688775.1:n.100+4A>T
ENST00000689440.1:n.102+4A>T
ENST00000690623.1:n.52+4A>T
ENST00000693393.1:n.102+4A>T
ENST00000381342.7:c.3+4A>T MANE Select	ENSP00000370746.3:n.3+4A>T
ENST00000339610.10:c.3+4A>T	ENSP00000342305.7:n.3+4A>T
ENST00000381342.6:c.3+4A>T	ENSP00000370746.2:n.3+4A>T
ENST00000438552.6:c.3+4A>T	ENSP00000412566.2:n.3+4A>T
ENST00000461548.1:c.305-2926A>T	ENSP00000456213.1:n.305-2926A>T
ENST00000474384.2:c.3+4A>T	ENSP00000474579.1:n.3+4A>T
NM_003091.3:c.3+4A>T	NP_003082.1:n.3+4A>T
NM_198216.1:c.3+4A>T	NP_937859.1:n.3+4A>T
NM_003091.4:c.3+4A>T MANE Select	NP_003082.1:n.3+4A>T
NM_198216.2:c.3+4A>T	NP_937859.1:n.3+4A>T