Canonical Allele Identifier: CA2651630532
Gene: SNRPB HGNC NCBI

Linked Data

gnomAD v4: 20-2470789-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470789C>A , CM000682.2:g.2470789C>A GRCh38
NC_000020.10:g.2451435C>A , CM000682.1:g.2451435C>A GRCh37
NC_000020.9:g.2399435C>A NCBI36
NG_042057.1:g.5065G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000689440.1:n.1G>T
ENST00000693393.1:n.1G>T
ENST00000381342.7:c.-99G>T MANE Select ENSP00000370746.3:n.-99G>T
ENST00000339610.10:c.-99G>T ENSP00000342305.7:n.-99G>T
ENST00000381342.6:c.-99G>T ENSP00000370746.2:n.-99G>T
ENST00000438552.6:c.-99G>T ENSP00000412566.2:n.-99G>T
ENST00000461548.1:c.305-3031G>T ENSP00000456213.1:n.305-3031G>T
NM_003091.3:c.-99G>T NP_003082.1:n.-99G>T
NM_198216.1:c.-99G>T NP_937859.1:n.-99G>T
NM_003091.4:c.-99G>T MANE Select NP_003082.1:n.-99G>T
NM_198216.2:c.-99G>T NP_937859.1:n.-99G>T