Canonical Allele Identifier: CA2651630559
Gene: SNRPB HGNC NCBI

Linked Data

gnomAD v4: 20-2470813-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470813G>T , CM000682.2:g.2470813G>T GRCh38
NC_000020.10:g.2451459G>T , CM000682.1:g.2451459G>T GRCh37
NC_000020.9:g.2399459G>T NCBI36
NG_042057.1:g.5041C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339610.10:c.-123C>A ENSP00000342305.7:n.-123C>A
ENST00000381342.6:c.-123C>A ENSP00000370746.2:n.-123C>A
ENST00000438552.6:c.-123C>A ENSP00000412566.2:n.-123C>A
ENST00000461548.1:c.305-3055C>A ENSP00000456213.1:n.305-3055C>A
NM_003091.3:c.-123C>A NP_003082.1:n.-123C>A
NM_198216.1:c.-123C>A NP_937859.1:n.-123C>A