Canonical Allele Identifier: CA9732570
Gene: SNRPB HGNC NCBI

Linked Data

dbSNP Id: rs773306365
gnomAD v2: 20-2451338-G-A
gnomAD v4: 20-2470692-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470692G>A , CM000682.2:g.2470692G>A GRCh38
NC_000020.10:g.2451338G>A , CM000682.1:g.2451338G>A GRCh37
NC_000020.9:g.2399338G>A NCBI36
NG_042057.1:g.5162C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000688423.1:n.96C>T
ENST00000688775.1:n.96C>T
ENST00000689440.1:n.98C>T
ENST00000690623.1:n.48C>T
ENST00000693393.1:n.98C>T
ENST00000381342.7:c.-2C>T MANE Select ENSP00000370746.3:n.-2C>T
ENST00000339610.10:c.-2C>T ENSP00000342305.7:n.-2C>T
ENST00000381342.6:c.-2C>T ENSP00000370746.2:n.-2C>T
ENST00000438552.6:c.-2C>T ENSP00000412566.2:n.-2C>T
ENST00000461548.1:c.305-2934C>T ENSP00000456213.1:n.305-2934C>T
ENST00000474384.2:c.-2C>T ENSP00000474579.1:n.-2C>T
NM_003091.3:c.-2C>T NP_003082.1:n.-2C>T
NM_198216.1:c.-2C>T NP_937859.1:n.-2C>T
NM_003091.4:c.-2C>T MANE Select NP_003082.1:n.-2C>T
NM_198216.2:c.-2C>T NP_937859.1:n.-2C>T