Canonical Allele Identifier: CA509391202
Gene: SNRPB HGNC NCBI

Linked Data

dbSNP Id: rs767276536
gnomAD v2: 20-2451368-G-T
gnomAD v3: 20-2470722-G-T
gnomAD v4: 20-2470722-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470722G>T , CM000682.2:g.2470722G>T GRCh38
NC_000020.10:g.2451368G>T , CM000682.1:g.2451368G>T GRCh37
NC_000020.9:g.2399368G>T NCBI36
NG_042057.1:g.5132C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000688423.1:n.66C>A
ENST00000688775.1:n.66C>A
ENST00000689440.1:n.68C>A
ENST00000690623.1:n.18C>A
ENST00000693393.1:n.68C>A
ENST00000381342.7:c.-32C>A MANE Select ENSP00000370746.3:n.-32C>A
ENST00000339610.10:c.-32C>A ENSP00000342305.7:n.-32C>A
ENST00000381342.6:c.-32C>A ENSP00000370746.2:n.-32C>A
ENST00000438552.6:c.-32C>A ENSP00000412566.2:n.-32C>A
ENST00000461548.1:c.305-2964C>A ENSP00000456213.1:n.305-2964C>A
ENST00000474384.2:c.-32C>A ENSP00000474579.1:n.-32C>A
NM_003091.3:c.-32C>A NP_003082.1:n.-32C>A
NM_198216.1:c.-32C>A NP_937859.1:n.-32C>A
NM_003091.4:c.-32C>A MANE Select NP_003082.1:n.-32C>A
NM_198216.2:c.-32C>A NP_937859.1:n.-32C>A