Canonical Allele Identifier: CA2651630362
Gene: SNRPB HGNC NCBI

Linked Data

gnomAD v4: 20-2470675-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470675G>C , CM000682.2:g.2470675G>C GRCh38
NC_000020.10:g.2451321G>C , CM000682.1:g.2451321G>C GRCh37
NC_000020.9:g.2399321G>C NCBI36
NG_042057.1:g.5179C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000688423.1:n.100+13C>G
ENST00000688775.1:n.100+13C>G
ENST00000689440.1:n.102+13C>G
ENST00000690623.1:n.52+13C>G
ENST00000693393.1:n.102+13C>G
ENST00000381342.7:c.3+13C>G MANE Select ENSP00000370746.3:n.3+13C>G
ENST00000339610.10:c.3+13C>G ENSP00000342305.7:n.3+13C>G
ENST00000381342.6:c.3+13C>G ENSP00000370746.2:n.3+13C>G
ENST00000438552.6:c.3+13C>G ENSP00000412566.2:n.3+13C>G
ENST00000461548.1:c.305-2917C>G ENSP00000456213.1:n.305-2917C>G
ENST00000474384.2:c.3+13C>G ENSP00000474579.1:n.3+13C>G
NM_003091.3:c.3+13C>G NP_003082.1:n.3+13C>G
NM_198216.1:c.3+13C>G NP_937859.1:n.3+13C>G
NM_003091.4:c.3+13C>G MANE Select NP_003082.1:n.3+13C>G
NM_198216.2:c.3+13C>G NP_937859.1:n.3+13C>G