Canonical Allele Identifier: CA310850007
Gene: SNRPB HGNC NCBI

Linked Data

dbSNP Id: rs117696487
gnomAD v3: 20-2470765-T-C
gnomAD v4: 20-2470765-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470765T>C , CM000682.2:g.2470765T>C GRCh38
NC_000020.10:g.2451411T>C , CM000682.1:g.2451411T>C GRCh37
NC_000020.9:g.2399411T>C NCBI36
NG_042057.1:g.5089A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000688423.1:n.23A>G
ENST00000688775.1:n.23A>G
ENST00000689440.1:n.25A>G
ENST00000693393.1:n.25A>G
ENST00000381342.7:c.-75A>G MANE Select ENSP00000370746.3:n.-75A>G
ENST00000339610.10:c.-75A>G ENSP00000342305.7:n.-75A>G
ENST00000381342.6:c.-75A>G ENSP00000370746.2:n.-75A>G
ENST00000438552.6:c.-75A>G ENSP00000412566.2:n.-75A>G
ENST00000461548.1:c.305-3007A>G ENSP00000456213.1:n.305-3007A>G
NM_003091.3:c.-75A>G NP_003082.1:n.-75A>G
NM_198216.1:c.-75A>G NP_937859.1:n.-75A>G
NM_003091.4:c.-75A>G MANE Select NP_003082.1:n.-75A>G
NM_198216.2:c.-75A>G NP_937859.1:n.-75A>G