Canonical Allele Identifier: CA2651630537
Gene: SNRPB HGNC NCBI

Linked Data

gnomAD v4: 20-2470795-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470795C>A , CM000682.2:g.2470795C>A GRCh38
NC_000020.10:g.2451441C>A , CM000682.1:g.2451441C>A GRCh37
NC_000020.9:g.2399441C>A NCBI36
NG_042057.1:g.5059G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339610.10:c.-105G>T ENSP00000342305.7:n.-105G>T
ENST00000381342.6:c.-105G>T ENSP00000370746.2:n.-105G>T
ENST00000438552.6:c.-105G>T ENSP00000412566.2:n.-105G>T
ENST00000461548.1:c.305-3037G>T ENSP00000456213.1:n.305-3037G>T
NM_003091.3:c.-105G>T NP_003082.1:n.-105G>T
NM_198216.1:c.-105G>T NP_937859.1:n.-105G>T