Canonical Allele Identifier: CA634141196
Gene: SNRPB HGNC NCBI

Linked Data

dbSNP Id: rs920622306
gnomAD v2: 20-2451419-G-T
gnomAD v3: 20-2470773-G-T
gnomAD v4: 20-2470773-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470773G>T , CM000682.2:g.2470773G>T GRCh38
NC_000020.10:g.2451419G>T , CM000682.1:g.2451419G>T GRCh37
NC_000020.9:g.2399419G>T NCBI36
NG_042057.1:g.5081C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000688423.1:n.15C>A
ENST00000688775.1:n.15C>A
ENST00000689440.1:n.17C>A
ENST00000693393.1:n.17C>A
ENST00000381342.7:c.-83C>A MANE Select ENSP00000370746.3:n.-83C>A
ENST00000339610.10:c.-83C>A ENSP00000342305.7:n.-83C>A
ENST00000381342.6:c.-83C>A ENSP00000370746.2:n.-83C>A
ENST00000438552.6:c.-83C>A ENSP00000412566.2:n.-83C>A
ENST00000461548.1:c.305-3015C>A ENSP00000456213.1:n.305-3015C>A
NM_003091.3:c.-83C>A NP_003082.1:n.-83C>A
NM_198216.1:c.-83C>A NP_937859.1:n.-83C>A
NM_003091.4:c.-83C>A MANE Select NP_003082.1:n.-83C>A
NM_198216.2:c.-83C>A NP_937859.1:n.-83C>A